ANKZF1 (ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1) - Rat Genome Database

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Gene: ANKZF1 (ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1) Homo sapiens
Analyze
Symbol: ANKZF1
Name: ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
RGD ID: 1602704
HGNC Page HGNC:25527
Description: Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat and zinc finger domain containing 1; ankyrin repeat and zinc finger domain-containing protein 1; FLJ10415; FLJ13144; tRNA endonuclease ANKZF1; Vms1; zinc finger protein 744; ZNF744
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,229,806 - 219,236,679 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,229,783 - 219,236,679 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,094,528 - 220,101,401 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,802,723 - 219,809,635 (+)NCBINCBI36Build 36hg18NCBI36
Celera2213,864,186 - 213,871,098 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,947,637 - 211,954,300 (+)NCBIHuRef
CHM1_12220,100,315 - 220,107,227 (+)NCBICHM1_1
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
membrane  (HDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16260042   PMID:16344560   PMID:16964243   PMID:17081983   PMID:19946888   PMID:20211142   PMID:21244100  
PMID:21832049   PMID:21873635   PMID:21896481   PMID:21900206   PMID:21914798   PMID:22190034   PMID:25544563   PMID:25814554   PMID:26344197   PMID:26673895   PMID:26972000   PMID:28302725  
PMID:28515276   PMID:29509190   PMID:29632312   PMID:30033366   PMID:30209976   PMID:30244831   PMID:31011209   PMID:31257922   PMID:31527615   PMID:32075755   PMID:32423001   PMID:33545068  
PMID:33658012   PMID:33961781   PMID:34917906   PMID:35271311   PMID:35509820   PMID:35944360   PMID:36244648   PMID:37704626  


Genomics

Comparative Map Data
ANKZF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,229,806 - 219,236,679 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,229,783 - 219,236,679 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,094,528 - 220,101,401 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,802,723 - 219,809,635 (+)NCBINCBI36Build 36hg18NCBI36
Celera2213,864,186 - 213,871,098 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,947,637 - 211,954,300 (+)NCBIHuRef
CHM1_12220,100,315 - 220,107,227 (+)NCBICHM1_1
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBIT2T-CHM13v2.0
Ankzf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,168,794 - 75,176,031 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,168,795 - 75,176,031 (+)EnsemblGRCm39 Ensembl
GRCm38175,192,160 - 75,199,387 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,192,151 - 75,199,387 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,188,709 - 75,195,962 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,075,470 - 75,082,535 (+)NCBIMGSCv36mm8
Celera175,683,022 - 75,690,274 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.62NCBI
Ankzf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,136,862 - 84,143,830 (+)NCBIGRCr8
mRatBN7.2976,688,194 - 76,695,162 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,688,194 - 76,696,469 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,132,777 - 85,139,969 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,261,668 - 90,268,859 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,647,881 - 88,655,073 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,393,619 - 82,400,537 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,393,672 - 82,400,530 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,162,796 - 82,169,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,474,576 - 74,481,441 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,621,557 - 74,628,419 (+)NCBI
Celera974,258,691 - 74,265,556 (+)NCBICelera
Cytogenetic Map9q33NCBI
Ankzf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,196,927 - 14,203,826 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,196,728 - 14,204,344 (-)NCBIChiLan1.0ChiLan1.0
ANKZF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,860,255 - 121,867,132 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,875,230 - 121,882,097 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,487,377 - 106,494,258 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,078,308 - 225,085,205 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,078,322 - 225,085,205 (+)Ensemblpanpan1.1panPan2
ANKZF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,777,665 - 25,783,892 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,777,713 - 25,783,887 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,603,570 - 26,609,798 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,792,895 - 25,799,127 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,792,944 - 25,799,115 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,697,312 - 25,703,536 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,632,421 - 25,638,646 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,653,278 - 25,659,511 (+)NCBIUU_Cfam_GSD_1.0
Ankzf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,302,947 - 175,310,747 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,650,088 - 1,653,522 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,645,780 - 1,653,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKZF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,266,127 - 121,273,812 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,265,693 - 121,273,813 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,300,646 - 134,308,773 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANKZF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,133,136 - 105,140,439 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,133,216 - 105,140,141 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,255,969 - 94,263,166 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankzf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,780,484 - 5,787,007 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,780,287 - 5,787,543 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKZF1
487 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
NM_018089.3(ANKZF1):c.1436T>C (p.Leu479Ser) single nucleotide variant Inborn genetic diseases [RCV003280868] Chr2:219235057 [GRCh38]
Chr2:220099779 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35
pathogenic
NM_018089.3(ANKZF1):c.1508G>A (p.Arg503Gln) single nucleotide variant not provided [RCV001907821] Chr2:219235129 [GRCh38]
Chr2:220099851 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1370C>T (p.Thr457Ile) single nucleotide variant ANKZF1-related condition [RCV003978369]|not provided [RCV000961121] Chr2:219234991 [GRCh38]
Chr2:220099713 [GRCh37]
Chr2:2q35
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_018089.3(ANKZF1):c.177A>C (p.Arg59Ser) single nucleotide variant ANKZF1-related condition [RCV003913243]|not provided [RCV000948254] Chr2:219231956 [GRCh38]
Chr2:220096678 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1803+7T>C single nucleotide variant not provided [RCV000901246] Chr2:219235592 [GRCh38]
Chr2:220100314 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.439G>A (p.Glu147Lys) single nucleotide variant ANKZF1-related condition [RCV003978368]|not provided [RCV000961120] Chr2:219232564 [GRCh38]
Chr2:220097286 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1850G>A (p.Arg617Gln) single nucleotide variant ANKZF1-related condition [RCV003910385]|not provided [RCV000881231] Chr2:219235754 [GRCh38]
Chr2:220100476 [GRCh37]
Chr2:2q35
benign|likely benign
NM_018089.3(ANKZF1):c.815A>G (p.Tyr272Cys) single nucleotide variant not provided [RCV000967826] Chr2:219233429 [GRCh38]
Chr2:220098151 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1107A>C (p.Val369=) single nucleotide variant ANKZF1-related condition [RCV003957959]|not provided [RCV000891963] Chr2:219234191 [GRCh38]
Chr2:220098913 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1708C>T (p.Pro570Ser) single nucleotide variant ANKZF1-related condition [RCV003935858]|not provided [RCV000956044] Chr2:219235490 [GRCh38]
Chr2:220100212 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35
pathogenic
NM_018089.3(ANKZF1):c.31C>T (p.Pro11Ser) single nucleotide variant not provided [RCV003106775] Chr2:219230288 [GRCh38]
Chr2:220095010 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35
likely pathogenic
NM_018089.3(ANKZF1):c.2059C>T (p.Arg687Cys) single nucleotide variant Inborn genetic diseases [RCV002543646]|not provided [RCV001314417] Chr2:219236323 [GRCh38]
Chr2:220101045 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.454G>A (p.Glu152Lys) single nucleotide variant not provided [RCV001362302] Chr2:219232579 [GRCh38]
Chr2:220097301 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1763T>C (p.Met588Thr) single nucleotide variant ANKZF1-related condition [RCV003963211]|not provided [RCV001316589] Chr2:219235545 [GRCh38]
Chr2:220100267 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.79C>G (p.Gln27Glu) single nucleotide variant not provided [RCV001433634] Chr2:219230336 [GRCh38]
Chr2:220095058 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3
pathogenic
NM_018089.3(ANKZF1):c.437G>A (p.Arg146Gln) single nucleotide variant Inborn genetic diseases [RCV002545102]|not provided [RCV001322063] Chr2:219232562 [GRCh38]
Chr2:220097284 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.1053A>C (p.Glu351Asp) single nucleotide variant not provided [RCV001347567] Chr2:219234137 [GRCh38]
Chr2:220098859 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.956C>T (p.Pro319Leu) single nucleotide variant not provided [RCV001304723] Chr2:219233851 [GRCh38]
Chr2:220098573 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1159G>A (p.Asp387Asn) single nucleotide variant not provided [RCV001325922] Chr2:219234243 [GRCh38]
Chr2:220098965 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1754G>A (p.Arg585Gln) single nucleotide variant ANKZF1-related condition [RCV003921072]|not provided [RCV001510296] Chr2:219235536 [GRCh38]
Chr2:220100258 [GRCh37]
Chr2:2q35
benign|likely benign
NM_018089.3(ANKZF1):c.1049-6T>C single nucleotide variant ANKZF1-related condition [RCV003940894]|not provided [RCV001511333] Chr2:219234127 [GRCh38]
Chr2:220098849 [GRCh37]
Chr2:2q35
benign|likely benign
NM_018089.3(ANKZF1):c.1599C>T (p.Ser533=) single nucleotide variant not provided [RCV001486890] Chr2:219235220 [GRCh38]
Chr2:220099942 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.6G>A (p.Ser2=) single nucleotide variant not provided [RCV001426985] Chr2:219230263 [GRCh38]
Chr2:220094985 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1824A>G (p.Pro608=) single nucleotide variant not provided [RCV001435169] Chr2:219235728 [GRCh38]
Chr2:220100450 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.375C>T (p.Ser125=) single nucleotide variant not provided [RCV001402119] Chr2:219232500 [GRCh38]
Chr2:220097222 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.148+18del deletion not provided [RCV001398283] Chr2:219230423 [GRCh38]
Chr2:220095145 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.249CCA[1] (p.His84del) microsatellite ANKZF1-related condition [RCV003930876]|not provided [RCV001408651] Chr2:219232027..219232029 [GRCh38]
Chr2:220096749..220096751 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1906CAGGAG[1] (p.636QE[1]) microsatellite ANKZF1-related condition [RCV003908858]|not provided [RCV001519154] Chr2:219235808..219235813 [GRCh38]
Chr2:220100530..220100535 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.149-16C>T single nucleotide variant not provided [RCV001478486] Chr2:219231912 [GRCh38]
Chr2:220096634 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1697C>G (p.Ser566Cys) single nucleotide variant ANKZF1-related condition [RCV003921146]|not provided [RCV001519419] Chr2:219235479 [GRCh38]
Chr2:220100201 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.256G>A (p.Glu86Lys) single nucleotide variant ANKZF1-related condition [RCV003931010]|not provided [RCV001494801] Chr2:219232035 [GRCh38]
Chr2:220096757 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+5G>A single nucleotide variant ANKZF1-related condition [RCV003938846]|not provided [RCV001473276] Chr2:219236100 [GRCh38]
Chr2:220100822 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1927C>A (p.Arg643=) single nucleotide variant ANKZF1-related condition [RCV003980485]|not provided [RCV001511398] Chr2:219235831 [GRCh38]
Chr2:220100553 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.978C>T (p.Leu326=) single nucleotide variant not provided [RCV001466358] Chr2:219233873 [GRCh38]
Chr2:220098595 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.364+16G>A single nucleotide variant not provided [RCV001512991] Chr2:219232378 [GRCh38]
Chr2:220097100 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1804-17T>C single nucleotide variant not provided [RCV001516204] Chr2:219235691 [GRCh38]
Chr2:220100413 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.889C>T (p.Arg297Cys) single nucleotide variant ANKZF1-related condition [RCV003956202]|not provided [RCV001520491] Chr2:219233784 [GRCh38]
Chr2:220098506 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.2027C>T (p.Pro676Leu) single nucleotide variant ANKZF1-related condition [RCV003980629]|not provided [RCV001522863] Chr2:219236065 [GRCh38]
Chr2:220100787 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1972-18A>C single nucleotide variant not provided [RCV001461171] Chr2:219235992 [GRCh38]
Chr2:220100714 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.410G>C (p.Ser137Thr) single nucleotide variant ANKZF1-related condition [RCV003983937]|not provided [RCV001516724] Chr2:219232535 [GRCh38]
Chr2:220097257 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1725G>A (p.Ala575=) single nucleotide variant ANKZF1-related condition [RCV003956130]|not provided [RCV001510636] Chr2:219235507 [GRCh38]
Chr2:220100229 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.173A>C (p.Glu58Ala) single nucleotide variant ANKZF1-related condition [RCV003931082]|not provided [RCV001514964] Chr2:219231952 [GRCh38]
Chr2:220096674 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1465C>T (p.Pro489Ser) single nucleotide variant not provided [RCV001397982] Chr2:219235086 [GRCh38]
Chr2:220099808 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1173G>A (p.Ala391=) single nucleotide variant not provided [RCV003107173] Chr2:219234257 [GRCh38]
Chr2:220098979 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.345T>G (p.Phe115Leu) single nucleotide variant not provided [RCV003108402] Chr2:219232343 [GRCh38]
Chr2:220097065 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.860C>T (p.Ala287Val) single nucleotide variant not provided [RCV001889157] Chr2:219233755 [GRCh38]
Chr2:220098477 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2018C>T (p.Pro673Leu) single nucleotide variant not provided [RCV002025899] Chr2:219236056 [GRCh38]
Chr2:220100778 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.365G>C (p.Gly122Ala) single nucleotide variant not provided [RCV002024829] Chr2:219232490 [GRCh38]
Chr2:220097212 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2153G>A (p.Arg718His) single nucleotide variant Inborn genetic diseases [RCV003375477]|not provided [RCV001950385] Chr2:219236417 [GRCh38]
Chr2:220101139 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1487A>G (p.Asn496Ser) single nucleotide variant not provided [RCV002042639] Chr2:219235108 [GRCh38]
Chr2:220099830 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.622G>A (p.Val208Met) single nucleotide variant Inborn genetic diseases [RCV002675463]|not provided [RCV002025866] Chr2:219233142 [GRCh38]
Chr2:220097864 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1803+3C>A single nucleotide variant not provided [RCV001914433] Chr2:219235588 [GRCh38]
Chr2:220100310 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.793C>T (p.Arg265Cys) single nucleotide variant not provided [RCV001863990] Chr2:219233407 [GRCh38]
Chr2:220098129 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1883G>A (p.Arg628Gln) single nucleotide variant Inborn genetic diseases [RCV002561321]|not provided [RCV001945570] Chr2:219235787 [GRCh38]
Chr2:220100509 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1699C>T (p.Arg567Trp) single nucleotide variant not provided [RCV002045508] Chr2:219235481 [GRCh38]
Chr2:220100203 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.746G>A (p.Arg249Gln) single nucleotide variant not provided [RCV002002977] Chr2:219233360 [GRCh38]
Chr2:220098082 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1972-2dup duplication not provided [RCV001971488] Chr2:219236007..219236008 [GRCh38]
Chr2:220100729..220100730 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2174C>G (p.Ser725Cys) single nucleotide variant not provided [RCV002024742] Chr2:219236438 [GRCh38]
Chr2:220101160 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1205-19_1205-18del deletion not provided [RCV001894795] Chr2:219234807..219234808 [GRCh38]
Chr2:220099529..220099530 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1
pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.703C>T (p.Arg235Cys) single nucleotide variant not provided [RCV002041848] Chr2:219233317 [GRCh38]
Chr2:220098039 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1801C>T (p.Gln601Ter) single nucleotide variant not provided [RCV002040039] Chr2:219235583 [GRCh38]
Chr2:220100305 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.332C>T (p.Ser111Phe) single nucleotide variant not provided [RCV001968720] Chr2:219232330 [GRCh38]
Chr2:220097052 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2046C>G (p.Ile682Met) single nucleotide variant not provided [RCV001912743] Chr2:219236084 [GRCh38]
Chr2:220100806 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.46_47del (p.Leu16fs) deletion not provided [RCV001948128] Chr2:219230303..219230304 [GRCh38]
Chr2:220095025..220095026 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.819+6T>C single nucleotide variant not provided [RCV001945188] Chr2:219233439 [GRCh38]
Chr2:220098161 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1493T>C (p.Leu498Pro) single nucleotide variant not provided [RCV001969103] Chr2:219235114 [GRCh38]
Chr2:220099836 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.310C>G (p.Leu104Val) single nucleotide variant not provided [RCV002040733] Chr2:219232308 [GRCh38]
Chr2:220097030 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1037T>C (p.Leu346Ser) single nucleotide variant not provided [RCV001908420] Chr2:219233932 [GRCh38]
Chr2:220098654 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.929A>G (p.Lys310Arg) single nucleotide variant not provided [RCV001984370] Chr2:219233824 [GRCh38]
Chr2:220098546 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1100A>T (p.Lys367Ile) single nucleotide variant not provided [RCV001965380] Chr2:219234184 [GRCh38]
Chr2:220098906 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1308GAG[2] (p.Arg439del) microsatellite not provided [RCV001890570] Chr2:219234928..219234930 [GRCh38]
Chr2:220099650..220099652 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.643G>A (p.Gly215Arg) single nucleotide variant not provided [RCV002044513] Chr2:219233163 [GRCh38]
Chr2:220097885 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.149-11_149-7del deletion not provided [RCV001986514] Chr2:219231914..219231918 [GRCh38]
Chr2:220096636..220096640 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.1999G>A (p.Ala667Thr) single nucleotide variant not provided [RCV002007802] Chr2:219236037 [GRCh38]
Chr2:220100759 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.709A>G (p.Thr237Ala) single nucleotide variant not provided [RCV001928477] Chr2:219233323 [GRCh38]
Chr2:220098045 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2056C>T (p.Arg686Ter) single nucleotide variant not provided [RCV001987564] Chr2:219236094 [GRCh38]
Chr2:220100816 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2047G>A (p.Val683Ile) single nucleotide variant not provided [RCV002024350] Chr2:219236085 [GRCh38]
Chr2:220100807 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1819A>G (p.Thr607Ala) single nucleotide variant not provided [RCV002044619] Chr2:219235723 [GRCh38]
Chr2:220100445 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1536_1545del (p.Gln513fs) deletion ANKZF1-related condition [RCV003407987]|not provided [RCV001968142] Chr2:219235153..219235162 [GRCh38]
Chr2:220099875..220099884 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1813C>T (p.Pro605Ser) single nucleotide variant not provided [RCV002020459] Chr2:219235717 [GRCh38]
Chr2:220100439 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2176T>A (p.Ser726Thr) single nucleotide variant not provided [RCV001984753] Chr2:219236440 [GRCh38]
Chr2:220101162 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1234C>T (p.Gln412Ter) single nucleotide variant not provided [RCV001914006] Chr2:219234855 [GRCh38]
Chr2:220099577 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.307C>T (p.Arg103Cys) single nucleotide variant not provided [RCV002044571] Chr2:219232305 [GRCh38]
Chr2:220097027 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.384G>A (p.Ser128=) single nucleotide variant not provided [RCV001947947] Chr2:219232509 [GRCh38]
Chr2:220097231 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.704G>A (p.Arg235His) single nucleotide variant not provided [RCV001969654] Chr2:219233318 [GRCh38]
Chr2:220098040 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.491G>A (p.Arg164Gln) single nucleotide variant not provided [RCV002024490] Chr2:219232616 [GRCh38]
Chr2:220097338 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.325C>G (p.Leu109Val) single nucleotide variant not provided [RCV001912205] Chr2:219232323 [GRCh38]
Chr2:220097045 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1849C>T (p.Arg617Trp) single nucleotide variant not provided [RCV001909260] Chr2:219235753 [GRCh38]
Chr2:220100475 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.673A>G (p.Arg225Gly) single nucleotide variant not provided [RCV001985723] Chr2:219233287 [GRCh38]
Chr2:220098009 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.148+9_148+10delinsAC indel not provided [RCV001912704] Chr2:219230414..219230415 [GRCh38]
Chr2:220095136..220095137 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.559G>A (p.Asp187Asn) single nucleotide variant not provided [RCV002005831] Chr2:219233079 [GRCh38]
Chr2:220097801 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.334G>T (p.Ala112Ser) single nucleotide variant not provided [RCV001982860] Chr2:219232332 [GRCh38]
Chr2:220097054 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_018089.3(ANKZF1):c.1529T>C (p.Leu510Pro) single nucleotide variant not provided [RCV002005813] Chr2:219235150 [GRCh38]
Chr2:220099872 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1007_1010dup (p.Gln337fs) duplication not provided [RCV001893348] Chr2:219233901..219233902 [GRCh38]
Chr2:220098623..220098624 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1022A>T (p.His341Leu) single nucleotide variant not provided [RCV001965992] Chr2:219233917 [GRCh38]
Chr2:220098639 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2060G>A (p.Arg687His) single nucleotide variant not provided [RCV001894255] Chr2:219236324 [GRCh38]
Chr2:220101046 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1255G>C (p.Glu419Gln) single nucleotide variant not provided [RCV001908416] Chr2:219234876 [GRCh38]
Chr2:220099598 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1268G>A (p.Gly423Glu) single nucleotide variant not provided [RCV001908568] Chr2:219234889 [GRCh38]
Chr2:220099611 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.715C>T (p.Arg239Trp) single nucleotide variant not provided [RCV001966303] Chr2:219233329 [GRCh38]
Chr2:220098051 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.985C>T (p.Arg329Cys) single nucleotide variant Inborn genetic diseases [RCV002551046]|not provided [RCV001894759] Chr2:219233880 [GRCh38]
Chr2:220098602 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.888G>C (p.Leu296Phe) single nucleotide variant not provided [RCV001910163] Chr2:219233783 [GRCh38]
Chr2:220098505 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1205-2A>G single nucleotide variant not provided [RCV001962602] Chr2:219234824 [GRCh38]
Chr2:220099546 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1742G>A (p.Arg581His) single nucleotide variant not provided [RCV002050655] Chr2:219235524 [GRCh38]
Chr2:220100246 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.70C>G (p.Pro24Ala) single nucleotide variant Inborn genetic diseases [RCV003355614]|not provided [RCV001897852] Chr2:219230327 [GRCh38]
Chr2:220095049 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.436C>T (p.Arg146Trp) single nucleotide variant not provided [RCV002000362] Chr2:219232561 [GRCh38]
Chr2:220097283 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1874G>A (p.Arg625Gln) single nucleotide variant not provided [RCV001951776] Chr2:219235778 [GRCh38]
Chr2:220100500 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.677A>G (p.Glu226Gly) single nucleotide variant Inborn genetic diseases [RCV003303313]|not provided [RCV001884677] Chr2:219233291 [GRCh38]
Chr2:220098013 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.752C>A (p.Ala251Asp) single nucleotide variant not provided [RCV002000891] Chr2:219233366 [GRCh38]
Chr2:220098088 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.271T>C (p.Tyr91His) single nucleotide variant not provided [RCV001886674] Chr2:219232269 [GRCh38]
Chr2:220096991 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.487C>T (p.His163Tyr) single nucleotide variant not provided [RCV001879219] Chr2:219232612 [GRCh38]
Chr2:220097334 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1060C>T (p.Arg354Trp) single nucleotide variant not provided [RCV001905693] Chr2:219234144 [GRCh38]
Chr2:220098866 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1049-12_1049-10del deletion not provided [RCV002000514] Chr2:219234119..219234121 [GRCh38]
Chr2:220098841..220098843 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.890G>A (p.Arg297His) single nucleotide variant not provided [RCV001888646] Chr2:219233785 [GRCh38]
Chr2:220098507 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1507C>T (p.Arg503Ter) single nucleotide variant not provided [RCV001942860] Chr2:219235128 [GRCh38]
Chr2:220099850 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.577G>A (p.Glu193Lys) single nucleotide variant not provided [RCV001943353] Chr2:219233097 [GRCh38]
Chr2:220097819 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1579C>T (p.Leu527Phe) single nucleotide variant Inborn genetic diseases [RCV003289406]|not provided [RCV002038679] Chr2:219235200 [GRCh38]
Chr2:220099922 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1700G>A (p.Arg567Gln) single nucleotide variant not provided [RCV001917344] Chr2:219235482 [GRCh38]
Chr2:220100204 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1013G>A (p.Arg338His) single nucleotide variant Inborn genetic diseases [RCV002561348]|not provided [RCV001921472] Chr2:219233908 [GRCh38]
Chr2:220098630 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1405A>C (p.Thr469Pro) single nucleotide variant not provided [RCV001888863] Chr2:219235026 [GRCh38]
Chr2:220099748 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.697T>C (p.Phe233Leu) single nucleotide variant not provided [RCV001939780] Chr2:219233311 [GRCh38]
Chr2:220098033 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.655G>A (p.Gly219Ser) single nucleotide variant not provided [RCV001943677] Chr2:219233175 [GRCh38]
Chr2:220097897 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.965G>C (p.Trp322Ser) single nucleotide variant not provided [RCV001992156] Chr2:219233860 [GRCh38]
Chr2:220098582 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.839C>A (p.Ala280Glu) single nucleotide variant not provided [RCV001916351] Chr2:219233734 [GRCh38]
Chr2:220098456 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.711G>A (p.Thr237=) single nucleotide variant not provided [RCV002014948] Chr2:219233325 [GRCh38]
Chr2:220098047 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.269A>G (p.His90Arg) single nucleotide variant Inborn genetic diseases [RCV002564431]|not provided [RCV001994904] Chr2:219232267 [GRCh38]
Chr2:220096989 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2156G>A (p.Arg719His) single nucleotide variant not provided [RCV001903093] Chr2:219236420 [GRCh38]
Chr2:220101142 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1097G>A (p.Trp366Ter) single nucleotide variant not provided [RCV002032124] Chr2:219234181 [GRCh38]
Chr2:220098903 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.152C>T (p.Ser51Leu) single nucleotide variant Inborn genetic diseases [RCV003375461]|not provided [RCV001936429] Chr2:219231931 [GRCh38]
Chr2:220096653 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2152C>T (p.Arg718Cys) single nucleotide variant not provided [RCV001876405] Chr2:219236416 [GRCh38]
Chr2:220101138 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.724C>T (p.Arg242Trp) single nucleotide variant Inborn genetic diseases [RCV002562772]|not provided [RCV001934110] Chr2:219233338 [GRCh38]
Chr2:220098060 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1189G>C (p.Glu397Gln) single nucleotide variant Inborn genetic diseases [RCV003170070]|not provided [RCV001953239] Chr2:219234273 [GRCh38]
Chr2:220098995 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1741C>T (p.Arg581Cys) single nucleotide variant not provided [RCV001991383] Chr2:219235523 [GRCh38]
Chr2:220100245 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1364A>G (p.His455Arg) single nucleotide variant not provided [RCV001918236] Chr2:219234985 [GRCh38]
Chr2:220099707 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2134C>T (p.Arg712Cys) single nucleotide variant not provided [RCV002027581] Chr2:219236398 [GRCh38]
Chr2:220101120 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1303A>C (p.Lys435Gln) single nucleotide variant not provided [RCV002013799] Chr2:219234924 [GRCh38]
Chr2:220099646 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.124C>G (p.Arg42Gly) single nucleotide variant not provided [RCV002031306] Chr2:219230381 [GRCh38]
Chr2:220095103 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2090G>C (p.Gly697Ala) single nucleotide variant not provided [RCV001995450] Chr2:219236354 [GRCh38]
Chr2:220101076 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.979G>A (p.Ala327Thr) single nucleotide variant Inborn genetic diseases [RCV003269086]|not provided [RCV002013862] Chr2:219233874 [GRCh38]
Chr2:220098596 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1012C>T (p.Arg338Cys) single nucleotide variant not provided [RCV001989536] Chr2:219233907 [GRCh38]
Chr2:220098629 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1243T>G (p.Leu415Val) single nucleotide variant not provided [RCV001870365] Chr2:219234864 [GRCh38]
Chr2:220099586 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1882C>T (p.Arg628Trp) single nucleotide variant not provided [RCV001901695] Chr2:219235786 [GRCh38]
Chr2:220100508 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.692A>C (p.Lys231Thr) single nucleotide variant not provided [RCV001901671] Chr2:219233306 [GRCh38]
Chr2:220098028 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1035T>A (p.Thr345=) single nucleotide variant not provided [RCV001951569] Chr2:219233930 [GRCh38]
Chr2:220098652 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.731C>T (p.Thr244Ile) single nucleotide variant not provided [RCV001867410] Chr2:219233345 [GRCh38]
Chr2:220098067 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.139T>G (p.Ser47Ala) single nucleotide variant not provided [RCV001904000] Chr2:219230396 [GRCh38]
Chr2:220095118 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1366C>T (p.Arg456Trp) single nucleotide variant not provided [RCV001926285] Chr2:219234987 [GRCh38]
Chr2:220099709 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1822C>A (p.Pro608Thr) single nucleotide variant Inborn genetic diseases [RCV003247170]|not provided [RCV001916877] Chr2:219235726 [GRCh38]
Chr2:220100448 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.582GCT[1] (p.Leu196del) microsatellite not provided [RCV001998409] Chr2:219233100..219233102 [GRCh38]
Chr2:220097822..220097824 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.125G>C (p.Arg42Pro) single nucleotide variant Inborn genetic diseases [RCV002550984]|not provided [RCV001930148] Chr2:219230382 [GRCh38]
Chr2:220095104 [GRCh37]
Chr2:2q35
uncertain significance
NC_000002.11:g.(?_220097339)_(220100931_?)del deletion not provided [RCV001980209] Chr2:220097339..220100931 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1994G>A (p.Arg665Gln) single nucleotide variant Inborn genetic diseases [RCV002562751]|not provided [RCV001974563] Chr2:219236032 [GRCh38]
Chr2:220100754 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1906del (p.Gln636fs) deletion ANKZF1-related condition [RCV003984150]|not provided [RCV002014805] Chr2:219235810 [GRCh38]
Chr2:220100532 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.710C>T (p.Thr237Met) single nucleotide variant not provided [RCV001899803] Chr2:219233324 [GRCh38]
Chr2:220098046 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2143C>T (p.Gln715Ter) single nucleotide variant not provided [RCV001864851] Chr2:219236407 [GRCh38]
Chr2:220101129 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1939C>T (p.Arg647Trp) single nucleotide variant not provided [RCV001980900] Chr2:219235843 [GRCh38]
Chr2:220100565 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1247A>G (p.Glu416Gly) single nucleotide variant not provided [RCV001883571] Chr2:219234868 [GRCh38]
Chr2:220099590 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.754C>T (p.Arg252Ter) single nucleotide variant not provided [RCV001958308] Chr2:219233368 [GRCh38]
Chr2:220098090 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1051G>A (p.Glu351Lys) single nucleotide variant not provided [RCV001959544] Chr2:219234135 [GRCh38]
Chr2:220098857 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV001973785] Chr2:219232660 [GRCh38]
Chr2:220097382 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1934A>G (p.Glu645Gly) single nucleotide variant not provided [RCV002031646] Chr2:219235838 [GRCh38]
Chr2:220100560 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.524T>C (p.Leu175Pro) single nucleotide variant not provided [RCV002013043] Chr2:219232649 [GRCh38]
Chr2:220097371 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2158C>G (p.Gln720Glu) single nucleotide variant not provided [RCV001979734] Chr2:219236422 [GRCh38]
Chr2:220101144 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.898C>T (p.Arg300Cys) single nucleotide variant Inborn genetic diseases [RCV002592628]|not provided [RCV001978511] Chr2:219233793 [GRCh38]
Chr2:220098515 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1351G>A (p.Glu451Lys) single nucleotide variant Inborn genetic diseases [RCV003375480]|not provided [RCV001981433] Chr2:219234972 [GRCh38]
Chr2:220099694 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.119dup (p.Ala41fs) duplication not provided [RCV001961320] Chr2:219230375..219230376 [GRCh38]
Chr2:220095097..220095098 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1541T>C (p.Leu514Pro) single nucleotide variant not provided [RCV001905698] Chr2:219235162 [GRCh38]
Chr2:220099884 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.970A>C (p.Ile324Leu) single nucleotide variant not provided [RCV001878110] Chr2:219233865 [GRCh38]
Chr2:220098587 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1589C>G (p.Pro530Arg) single nucleotide variant Inborn genetic diseases [RCV003289287]|not provided [RCV001981342] Chr2:219235210 [GRCh38]
Chr2:220099932 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1655G>A (p.Arg552His) single nucleotide variant not provided [RCV001884404] Chr2:219235276 [GRCh38]
Chr2:220099998 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.154G>A (p.Gly52Arg) single nucleotide variant not provided [RCV001897974] Chr2:219231933 [GRCh38]
Chr2:220096655 [GRCh37]
Chr2:2q35
uncertain significance
NC_000002.11:g.(?_220101116)_(220102135_?)del deletion not provided [RCV001989891] Chr2:220101116..220102135 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.392A>G (p.Glu131Gly) single nucleotide variant not provided [RCV001973908] Chr2:219232517 [GRCh38]
Chr2:220097239 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1107_1108del (p.Glu371fs) deletion not provided [RCV001867149] Chr2:219234191..219234192 [GRCh38]
Chr2:220098913..220098914 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.485C>T (p.Pro162Leu) single nucleotide variant Inborn genetic diseases [RCV002562754]|not provided [RCV001974631] Chr2:219232610 [GRCh38]
Chr2:220097332 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.417G>C (p.Glu139Asp) single nucleotide variant not provided [RCV001971991] Chr2:219232542 [GRCh38]
Chr2:220097264 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2110C>T (p.Leu704Phe) single nucleotide variant not provided [RCV001919704] Chr2:219236374 [GRCh38]
Chr2:220101096 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.383C>T (p.Ser128Leu) single nucleotide variant not provided [RCV001919668] Chr2:219232508 [GRCh38]
Chr2:220097230 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1415C>T (p.Ser472Phe) single nucleotide variant not provided [RCV001904283] Chr2:219235036 [GRCh38]
Chr2:220099758 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1306C>T (p.Arg436Trp) single nucleotide variant not provided [RCV002026544] Chr2:219234927 [GRCh38]
Chr2:220099649 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.682G>A (p.Val228Met) single nucleotide variant not provided [RCV001897386] Chr2:219233296 [GRCh38]
Chr2:220098018 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV001992207] Chr2:219234928 [GRCh38]
Chr2:220099650 [GRCh37]
Chr2:2q35
uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1765G>A (p.Glu589Lys) single nucleotide variant not provided [RCV001883155] Chr2:219235547 [GRCh38]
Chr2:220100269 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.958C>T (p.Arg320Ter) single nucleotide variant not provided [RCV001989654] Chr2:219233853 [GRCh38]
Chr2:220098575 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1692-8G>A single nucleotide variant not provided [RCV002112028] Chr2:219235466 [GRCh38]
Chr2:220100188 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1048+20C>T single nucleotide variant not provided [RCV002184995] Chr2:219233963 [GRCh38]
Chr2:220098685 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1922G>A (p.Arg641His) single nucleotide variant not provided [RCV002165483] Chr2:219235826 [GRCh38]
Chr2:220100548 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1407A>C (p.Thr469=) single nucleotide variant not provided [RCV002186647] Chr2:219235028 [GRCh38]
Chr2:220099750 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1971+9G>T single nucleotide variant not provided [RCV002125191] Chr2:219235884 [GRCh38]
Chr2:220100606 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2076G>C (p.Gly692=) single nucleotide variant not provided [RCV002107012] Chr2:219236340 [GRCh38]
Chr2:220101062 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.180G>A (p.Lys60=) single nucleotide variant ANKZF1-related condition [RCV003958831]|not provided [RCV002106648] Chr2:219231959 [GRCh38]
Chr2:220096681 [GRCh37]
Chr2:2q35
benign|likely benign
NM_018089.3(ANKZF1):c.1242G>A (p.Glu414=) single nucleotide variant not provided [RCV002146134] Chr2:219234863 [GRCh38]
Chr2:220099585 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.148+7T>G single nucleotide variant not provided [RCV002167483] Chr2:219230412 [GRCh38]
Chr2:220095134 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_018089.3(ANKZF1):c.820-15T>C single nucleotide variant not provided [RCV002091394] Chr2:219233700 [GRCh38]
Chr2:220098422 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2046C>T (p.Ile682=) single nucleotide variant not provided [RCV002095970] Chr2:219236084 [GRCh38]
Chr2:220100806 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.765A>G (p.Pro255=) single nucleotide variant not provided [RCV002080724] Chr2:219233379 [GRCh38]
Chr2:220098101 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.834G>A (p.Leu278=) single nucleotide variant not provided [RCV002165725] Chr2:219233729 [GRCh38]
Chr2:220098451 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1048+22del deletion not provided [RCV002153202] Chr2:219233963 [GRCh38]
Chr2:220098685 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.558+10A>C single nucleotide variant not provided [RCV002213248] Chr2:219232693 [GRCh38]
Chr2:220097415 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1722T>C (p.Val574=) single nucleotide variant not provided [RCV002193557] Chr2:219235504 [GRCh38]
Chr2:220100226 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+16T>C single nucleotide variant not provided [RCV002213635] Chr2:219236111 [GRCh38]
Chr2:220100833 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1785C>T (p.Tyr595=) single nucleotide variant not provided [RCV002172400] Chr2:219235567 [GRCh38]
Chr2:220100289 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.429A>C (p.Thr143=) single nucleotide variant not provided [RCV002091854] Chr2:219232554 [GRCh38]
Chr2:220097276 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+13G>A single nucleotide variant not provided [RCV002193775] Chr2:219236108 [GRCh38]
Chr2:220100830 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.558+17G>A single nucleotide variant not provided [RCV002135264] Chr2:219232700 [GRCh38]
Chr2:220097422 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.1972-19C>A single nucleotide variant not provided [RCV002196090] Chr2:219235991 [GRCh38]
Chr2:220100713 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.820-18A>C single nucleotide variant not provided [RCV002188530] Chr2:219233697 [GRCh38]
Chr2:220098419 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+11C>T single nucleotide variant not provided [RCV002114752] Chr2:219236106 [GRCh38]
Chr2:220100828 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1691+13C>T single nucleotide variant not provided [RCV002133895] Chr2:219235325 [GRCh38]
Chr2:220100047 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.447T>C (p.Ala149=) single nucleotide variant not provided [RCV002124539] Chr2:219232572 [GRCh38]
Chr2:220097294 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.951G>T (p.Gly317=) single nucleotide variant not provided [RCV002073722] Chr2:219233846 [GRCh38]
Chr2:220098568 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1962C>T (p.Asp654=) single nucleotide variant ANKZF1-related condition [RCV003923455]|not provided [RCV002169481] Chr2:219235866 [GRCh38]
Chr2:220100588 [GRCh37]
Chr2:2q35
benign|likely benign
NM_018089.3(ANKZF1):c.207A>G (p.Ser69=) single nucleotide variant not provided [RCV002131643] Chr2:219231986 [GRCh38]
Chr2:220096708 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1803+16A>G single nucleotide variant not provided [RCV002153205] Chr2:219235601 [GRCh38]
Chr2:220100323 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.365-10C>T single nucleotide variant not provided [RCV002215653] Chr2:219232480 [GRCh38]
Chr2:220097202 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1971+7C>T single nucleotide variant not provided [RCV002196971] Chr2:219235882 [GRCh38]
Chr2:220100604 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1296A>G (p.Val432=) single nucleotide variant not provided [RCV002089174] Chr2:219234917 [GRCh38]
Chr2:220099639 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.559-11C>T single nucleotide variant not provided [RCV002140573] Chr2:219233068 [GRCh38]
Chr2:220097790 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.365-6C>T single nucleotide variant not provided [RCV002220811] Chr2:219232484 [GRCh38]
Chr2:220097206 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1167G>A (p.Lys389=) single nucleotide variant not provided [RCV002181155] Chr2:219234251 [GRCh38]
Chr2:220098973 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1692-5C>T single nucleotide variant not provided [RCV002156344] Chr2:219235469 [GRCh38]
Chr2:220100191 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.597G>A (p.Leu199=) single nucleotide variant not provided [RCV002083481] Chr2:219233117 [GRCh38]
Chr2:220097839 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1048+16A>C single nucleotide variant not provided [RCV002121578] Chr2:219233959 [GRCh38]
Chr2:220098681 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.564C>T (p.Pro188=) single nucleotide variant not provided [RCV002218852] Chr2:219233084 [GRCh38]
Chr2:220097806 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1972-18A>G single nucleotide variant not provided [RCV002119057] Chr2:219235992 [GRCh38]
Chr2:220100714 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1803+20A>C single nucleotide variant not provided [RCV002199767] Chr2:219235605 [GRCh38]
Chr2:220100327 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1220G>A (p.Gly407Glu) single nucleotide variant not provided [RCV002220501] Chr2:219234841 [GRCh38]
Chr2:220099563 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2040T>C (p.Ser680=) single nucleotide variant not provided [RCV002101988] Chr2:219236078 [GRCh38]
Chr2:220100800 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.85C>T (p.Leu29=) single nucleotide variant not provided [RCV002103744] Chr2:219230342 [GRCh38]
Chr2:220095064 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1503T>C (p.Ala501=) single nucleotide variant not provided [RCV002154425] Chr2:219235124 [GRCh38]
Chr2:220099846 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1657C>T (p.Leu553=) single nucleotide variant not provided [RCV002154433] Chr2:219235278 [GRCh38]
Chr2:220100000 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1705C>T (p.Arg569Trp) single nucleotide variant not provided [RCV002202155] Chr2:219235487 [GRCh38]
Chr2:220100209 [GRCh37]
Chr2:2q35
benign
NM_018089.3(ANKZF1):c.306A>G (p.Gln102=) single nucleotide variant not provided [RCV002203881] Chr2:219232304 [GRCh38]
Chr2:220097026 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.364+16G>C single nucleotide variant not provided [RCV002176280] Chr2:219232378 [GRCh38]
Chr2:220097100 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1455G>A (p.Glu485=) single nucleotide variant not provided [RCV002117514] Chr2:219235076 [GRCh38]
Chr2:220099798 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1791CAA[1] (p.Asn598del) microsatellite not provided [RCV002140418] Chr2:219235572..219235574 [GRCh38]
Chr2:220100294..220100296 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.820-17G>C single nucleotide variant not provided [RCV002081965] Chr2:219233698 [GRCh38]
Chr2:220098420 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1317A>G (p.Arg439=) single nucleotide variant not provided [RCV002204149] Chr2:219234938 [GRCh38]
Chr2:220099660 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.825T>C (p.Val275=) single nucleotide variant not provided [RCV002141773] Chr2:219233720 [GRCh38]
Chr2:220098442 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1971+9G>A single nucleotide variant not provided [RCV002138663] Chr2:219235884 [GRCh38]
Chr2:220100606 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1581C>T (p.Leu527=) single nucleotide variant ANKZF1-related condition [RCV003954047]|not provided [RCV003115377] Chr2:219235202 [GRCh38]
Chr2:220099924 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1927C>G (p.Arg643Gly) single nucleotide variant not provided [RCV003114966] Chr2:219235831 [GRCh38]
Chr2:220100553 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1367G>A (p.Arg456Gln) single nucleotide variant not provided [RCV003112893] Chr2:219234988 [GRCh38]
Chr2:220099710 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1877G>A (p.Arg626Gln) single nucleotide variant not provided [RCV003113001] Chr2:219235781 [GRCh38]
Chr2:220100503 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.490C>T (p.Arg164Ter) single nucleotide variant not provided [RCV003118579] Chr2:219232615 [GRCh38]
Chr2:220097337 [GRCh37]
Chr2:2q35
uncertain significance
NC_000002.11:g.(?_220101115)_(220102134_?)del deletion not provided [RCV003119876] Chr2:220101115..220102134 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.638C>T (p.Ala213Val) single nucleotide variant not provided [RCV002726470] Chr2:219233158 [GRCh38]
Chr2:220097880 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1954C>G (p.Leu652Val) single nucleotide variant not provided [RCV002300216] Chr2:219235858 [GRCh38]
Chr2:220100580 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1123A>G (p.Lys375Glu) single nucleotide variant not provided [RCV002304480] Chr2:219234207 [GRCh38]
Chr2:220098929 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.414G>C (p.Glu138Asp) single nucleotide variant not provided [RCV002303551] Chr2:219232539 [GRCh38]
Chr2:220097261 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1877G>C (p.Arg626Pro) single nucleotide variant not provided [RCV002305231] Chr2:219235781 [GRCh38]
Chr2:220100503 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2083C>G (p.Leu695Val) single nucleotide variant not provided [RCV002295007] Chr2:219236347 [GRCh38]
Chr2:220101069 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1964G>T (p.Arg655Leu) single nucleotide variant not provided [RCV002296832] Chr2:219235868 [GRCh38]
Chr2:220100590 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV002302422] Chr2:219230328 [GRCh38]
Chr2:220095050 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1712C>T (p.Pro571Leu) single nucleotide variant not provided [RCV002902941] Chr2:219235494 [GRCh38]
Chr2:220100216 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1894C>T (p.Gln632Ter) single nucleotide variant not provided [RCV002838459] Chr2:219235798 [GRCh38]
Chr2:220100520 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1804-10A>T single nucleotide variant not provided [RCV002819577] Chr2:219235698 [GRCh38]
Chr2:220100420 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.177_180del (p.Arg59fs) microsatellite not provided [RCV002636136] Chr2:219231950..219231953 [GRCh38]
Chr2:220096672..220096675 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1061G>A (p.Arg354Gln) single nucleotide variant not provided [RCV002618754] Chr2:219234145 [GRCh38]
Chr2:220098867 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.9G>C (p.Pro3=) single nucleotide variant not provided [RCV002819514] Chr2:219230266 [GRCh38]
Chr2:220094988 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.14C>T (p.Pro5Leu) single nucleotide variant not provided [RCV002975528] Chr2:219230271 [GRCh38]
Chr2:220094993 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.923G>A (p.Gly308Glu) single nucleotide variant not provided [RCV002617623] Chr2:219233818 [GRCh38]
Chr2:220098540 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1208C>G (p.Ser403Ter) single nucleotide variant not provided [RCV003032412] Chr2:219234829 [GRCh38]
Chr2:220099551 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.153del (p.Glu53fs) deletion not provided [RCV002863867] Chr2:219231932 [GRCh38]
Chr2:220096654 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1045T>C (p.Tyr349His) single nucleotide variant ANKZF1-related condition [RCV003418707]|not provided [RCV003015470] Chr2:219233940 [GRCh38]
Chr2:220098662 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.810A>G (p.Thr270=) single nucleotide variant not provided [RCV002881156] Chr2:219233424 [GRCh38]
Chr2:220098146 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1172C>T (p.Ala391Val) single nucleotide variant not provided [RCV003098897] Chr2:219234256 [GRCh38]
Chr2:220098978 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1913_1921del (p.Gln638_Glu640del) deletion not provided [RCV002974973] Chr2:219235811..219235819 [GRCh38]
Chr2:220100533..220100541 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.383C>A (p.Ser128Ter) single nucleotide variant not provided [RCV002819282] Chr2:219232508 [GRCh38]
Chr2:220097230 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.83G>T (p.Gly28Val) single nucleotide variant not provided [RCV003016969] Chr2:219230340 [GRCh38]
Chr2:220095062 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1697_1719del (p.Ser566fs) deletion ANKZF1-related condition [RCV003984276]|not provided [RCV002751351] Chr2:219235476..219235498 [GRCh38]
Chr2:220100198..220100220 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1764G>A (p.Met588Ile) single nucleotide variant Inborn genetic diseases [RCV002783518] Chr2:219235546 [GRCh38]
Chr2:220100268 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.933A>G (p.Gly311=) single nucleotide variant not provided [RCV002663022] Chr2:219233828 [GRCh38]
Chr2:220098550 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1927C>T (p.Arg643Ter) single nucleotide variant not provided [RCV002795550] Chr2:219235831 [GRCh38]
Chr2:220100553 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1711C>T (p.Pro571Ser) single nucleotide variant not provided [RCV002658853] Chr2:219235493 [GRCh38]
Chr2:220100215 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.796T>C (p.Tyr266His) single nucleotide variant Inborn genetic diseases [RCV002888374] Chr2:219233410 [GRCh38]
Chr2:220098132 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1208C>T (p.Ser403Leu) single nucleotide variant not provided [RCV003020905] Chr2:219234829 [GRCh38]
Chr2:220099551 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1698_1699del (p.Arg567fs) microsatellite not provided [RCV002706058] Chr2:219235477..219235478 [GRCh38]
Chr2:220100199..220100200 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.558+5G>A single nucleotide variant not provided [RCV002571943] Chr2:219232688 [GRCh38]
Chr2:220097410 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1048+20C>A single nucleotide variant not provided [RCV002593218] Chr2:219233963 [GRCh38]
Chr2:220098685 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.809C>G (p.Thr270Arg) single nucleotide variant not provided [RCV002914495] Chr2:219233423 [GRCh38]
Chr2:220098145 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.621C>T (p.Cys207=) single nucleotide variant not provided [RCV002953662] Chr2:219233141 [GRCh38]
Chr2:220097863 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1249C>T (p.Leu417=) single nucleotide variant not provided [RCV002658602] Chr2:219234870 [GRCh38]
Chr2:220099592 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1794_1796delinsGGC (p.Asn598_Lys599delinsLysAla) indel not provided [RCV002639205] Chr2:219235576..219235578 [GRCh38]
Chr2:220100298..220100300 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2113G>A (p.Asp705Asn) single nucleotide variant not provided [RCV002690933] Chr2:219236377 [GRCh38]
Chr2:220101099 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.255A>C (p.Gln85His) single nucleotide variant not provided [RCV003019288] Chr2:219232034 [GRCh38]
Chr2:220096756 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.261+18G>A single nucleotide variant not provided [RCV002735241] Chr2:219232058 [GRCh38]
Chr2:220096780 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1641A>G (p.Arg547=) single nucleotide variant not provided [RCV003036016] Chr2:219235262 [GRCh38]
Chr2:220099984 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1308G>A (p.Arg436=) single nucleotide variant not provided [RCV002866274] Chr2:219234929 [GRCh38]
Chr2:220099651 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.73G>A (p.Val25Ile) single nucleotide variant Inborn genetic diseases [RCV002910999]|not provided [RCV003111714] Chr2:219230330 [GRCh38]
Chr2:220095052 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.1921C>T (p.Arg641Cys) single nucleotide variant Inborn genetic diseases [RCV003250624]|not provided [RCV002923255] Chr2:219235825 [GRCh38]
Chr2:220100547 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.1371T>A (p.Thr457=) single nucleotide variant not provided [RCV002953123] Chr2:219234992 [GRCh38]
Chr2:220099714 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.568G>A (p.Glu190Lys) single nucleotide variant Inborn genetic diseases [RCV002888373] Chr2:219233088 [GRCh38]
Chr2:220097810 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1729G>C (p.Asp577His) single nucleotide variant not provided [RCV002923338] Chr2:219235511 [GRCh38]
Chr2:220100233 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1283G>T (p.Cys428Phe) single nucleotide variant not provided [RCV003019620] Chr2:219234904 [GRCh38]
Chr2:220099626 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1838G>A (p.Arg613Gln) single nucleotide variant not provided [RCV002621545] Chr2:219235742 [GRCh38]
Chr2:220100464 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.671+3G>T single nucleotide variant not provided [RCV003020589] Chr2:219233194 [GRCh38]
Chr2:220097916 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1969_1971delAAG (p.Lys657del) deletion not provided [RCV003021168] Chr2:219235871..219235873 [GRCh38]
Chr2:220100593..220100595 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1048+12C>T single nucleotide variant not provided [RCV003055028] Chr2:219233955 [GRCh38]
Chr2:220098677 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.365-12G>T single nucleotide variant not provided [RCV002886430] Chr2:219232478 [GRCh38]
Chr2:220097200 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1042G>A (p.Val348Ile) single nucleotide variant not provided [RCV002823868] Chr2:219233937 [GRCh38]
Chr2:220098659 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2020A>G (p.Thr674Ala) single nucleotide variant not provided [RCV003080583] Chr2:219236058 [GRCh38]
Chr2:220100780 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.649T>C (p.Phe217Leu) single nucleotide variant not provided [RCV002736362] Chr2:219233169 [GRCh38]
Chr2:220097891 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2007G>A (p.Gln669=) single nucleotide variant not provided [RCV002871004] Chr2:219236045 [GRCh38]
Chr2:220100767 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1940G>A (p.Arg647Gln) single nucleotide variant not provided [RCV002976385] Chr2:219235844 [GRCh38]
Chr2:220100566 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1876C>T (p.Arg626Trp) single nucleotide variant Inborn genetic diseases [RCV003100522]|not provided [RCV003082887] Chr2:219235780 [GRCh38]
Chr2:220100502 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.261G>A (p.Gln87=) single nucleotide variant not provided [RCV002912632] Chr2:219232040 [GRCh38]
Chr2:220096762 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1220_1222del (p.Gly407del) deletion not provided [RCV002866190] Chr2:219234840..219234842 [GRCh38]
Chr2:220099562..220099564 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2022C>T (p.Thr674=) single nucleotide variant not provided [RCV002760570] Chr2:219236060 [GRCh38]
Chr2:220100782 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+4T>C single nucleotide variant not provided [RCV002627259] Chr2:219236099 [GRCh38]
Chr2:220100821 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.986G>A (p.Arg329His) single nucleotide variant ANKZF1-related condition [RCV003409979]|not provided [RCV002957881] Chr2:219233881 [GRCh38]
Chr2:220098603 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1709C>T (p.Pro570Leu) single nucleotide variant Inborn genetic diseases [RCV002827784] Chr2:219235491 [GRCh38]
Chr2:220100213 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1325del (p.Asn442fs) deletion not provided [RCV002828398] Chr2:219234945 [GRCh38]
Chr2:220099667 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1993C>T (p.Arg665Ter) single nucleotide variant ANKZF1-related condition [RCV003418625]|not provided [RCV002872708] Chr2:219236031 [GRCh38]
Chr2:220100753 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1198A>C (p.Lys400Gln) single nucleotide variant not provided [RCV002667274] Chr2:219234282 [GRCh38]
Chr2:220099004 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.907C>T (p.Arg303Trp) single nucleotide variant Inborn genetic diseases [RCV002701524]|not provided [RCV002710506] Chr2:219233802 [GRCh38]
Chr2:220098524 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1699del (p.Arg567fs) deletion not provided [RCV003083258] Chr2:219235481 [GRCh38]
Chr2:220100203 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.466C>T (p.Arg156Ter) single nucleotide variant not provided [RCV002625423] Chr2:219232591 [GRCh38]
Chr2:220097313 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.41T>A (p.Ile14Asn) single nucleotide variant not provided [RCV003040770] Chr2:219230298 [GRCh38]
Chr2:220095020 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.899G>A (p.Arg300His) single nucleotide variant Inborn genetic diseases [RCV002787429] Chr2:219233794 [GRCh38]
Chr2:220098516 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1837C>G (p.Arg613Gly) single nucleotide variant not provided [RCV002801249] Chr2:219235741 [GRCh38]
Chr2:220100463 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.221G>C (p.Cys74Ser) single nucleotide variant not provided [RCV002626752] Chr2:219232000 [GRCh38]
Chr2:220096722 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2057+20G>A single nucleotide variant not provided [RCV002666759] Chr2:219236115 [GRCh38]
Chr2:220100837 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.869A>G (p.Glu290Gly) single nucleotide variant not provided [RCV002643655] Chr2:219233764 [GRCh38]
Chr2:220098486 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1112_1113del (p.Glu371fs) microsatellite not provided [RCV003041095] Chr2:219234192..219234193 [GRCh38]
Chr2:220098914..220098915 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2106C>A (p.His702Gln) single nucleotide variant not provided [RCV003007263] Chr2:219236370 [GRCh38]
Chr2:220101092 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.898C>G (p.Arg300Gly) single nucleotide variant not provided [RCV002595059] Chr2:219233793 [GRCh38]
Chr2:220098515 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1968G>T (p.Glu656Asp) single nucleotide variant not provided [RCV002711777] Chr2:219235872 [GRCh38]
Chr2:220100594 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1566A>T (p.Arg522Ser) single nucleotide variant not provided [RCV002625615] Chr2:219235187 [GRCh38]
Chr2:220099909 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1749G>A (p.Glu583=) single nucleotide variant not provided [RCV002893839] Chr2:219235531 [GRCh38]
Chr2:220100253 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2082C>T (p.Ser694=) single nucleotide variant not provided [RCV002623820] Chr2:219236346 [GRCh38]
Chr2:220101068 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1373T>C (p.Leu458Pro) single nucleotide variant not provided [RCV002663406] Chr2:219234994 [GRCh38]
Chr2:220099716 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1113G>A (p.Glu371=) single nucleotide variant not provided [RCV002667743] Chr2:219234197 [GRCh38]
Chr2:220098919 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.656G>A (p.Gly219Asp) single nucleotide variant Inborn genetic diseases [RCV002802245] Chr2:219233176 [GRCh38]
Chr2:220097898 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1204+9A>G single nucleotide variant not provided [RCV002982686] Chr2:219234297 [GRCh38]
Chr2:220099019 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.999C>T (p.Phe333=) single nucleotide variant not provided [RCV002643920] Chr2:219233894 [GRCh38]
Chr2:220098616 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.424C>G (p.Gln142Glu) single nucleotide variant not provided [RCV002643503] Chr2:219232549 [GRCh38]
Chr2:220097271 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.997_1000del (p.Phe333fs) deletion not provided [RCV003024354] Chr2:219233890..219233893 [GRCh38]
Chr2:220098612..220098615 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1926A>G (p.Glu642=) single nucleotide variant not provided [RCV002766620] Chr2:219235830 [GRCh38]
Chr2:220100552 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1994G>T (p.Arg665Leu) single nucleotide variant not provided [RCV003057813] Chr2:219236032 [GRCh38]
Chr2:220100754 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.418G>A (p.Asp140Asn) single nucleotide variant not provided [RCV002801135] Chr2:219232543 [GRCh38]
Chr2:220097265 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1325A>G (p.Asn442Ser) single nucleotide variant Inborn genetic diseases [RCV002595390]|not provided [RCV002595389] Chr2:219234946 [GRCh38]
Chr2:220099668 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.755G>A (p.Arg252Gln) single nucleotide variant Inborn genetic diseases [RCV002744756] Chr2:219233369 [GRCh38]
Chr2:220098091 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.338T>C (p.Leu113Pro) single nucleotide variant not provided [RCV002966974] Chr2:219232336 [GRCh38]
Chr2:220097058 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1859A>G (p.Glu620Gly) single nucleotide variant not provided [RCV003026459] Chr2:219235763 [GRCh38]
Chr2:220100485 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.837G>A (p.Leu279=) single nucleotide variant not provided [RCV003026936] Chr2:219233732 [GRCh38]
Chr2:220098454 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1109G>A (p.Arg370Lys) single nucleotide variant not provided [RCV003047576] Chr2:219234193 [GRCh38]
Chr2:220098915 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1174del (p.Leu392fs) deletion not provided [RCV003047758] Chr2:219234258 [GRCh38]
Chr2:220098980 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV002578565] Chr2:219232287 [GRCh38]
Chr2:220097009 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1204G>C (p.Gly402Arg) single nucleotide variant not provided [RCV003031489] Chr2:219234288 [GRCh38]
Chr2:220099010 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2007G>T (p.Gln669His) single nucleotide variant Inborn genetic diseases [RCV002832188] Chr2:219236045 [GRCh38]
Chr2:220100767 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.672-9T>C single nucleotide variant not provided [RCV003009222] Chr2:219233277 [GRCh38]
Chr2:220097999 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.862C>T (p.Leu288=) single nucleotide variant not provided [RCV002898595] Chr2:219233757 [GRCh38]
Chr2:220098479 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.559-17G>A single nucleotide variant not provided [RCV003047022] Chr2:219233062 [GRCh38]
Chr2:220097784 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.261+5T>A single nucleotide variant not provided [RCV002599579] Chr2:219232045 [GRCh38]
Chr2:220096767 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.364+15G>T single nucleotide variant not provided [RCV002806114] Chr2:219232377 [GRCh38]
Chr2:220097099 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1786G>A (p.Asp596Asn) single nucleotide variant not provided [RCV002937881] Chr2:219235568 [GRCh38]
Chr2:220100290 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1871C>T (p.Ala624Val) single nucleotide variant not provided [RCV003046030] Chr2:219235775 [GRCh38]
Chr2:220100497 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1979T>C (p.Leu660Pro) single nucleotide variant not provided [RCV002717270] Chr2:219236017 [GRCh38]
Chr2:220100739 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.805G>A (p.Ala269Thr) single nucleotide variant Inborn genetic diseases [RCV002834773]|not provided [RCV002834772] Chr2:219233419 [GRCh38]
Chr2:220098141 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1804-12G>C single nucleotide variant not provided [RCV002597418] Chr2:219235696 [GRCh38]
Chr2:220100418 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV002647948] Chr2:219234964 [GRCh38]
Chr2:220099686 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1901G>A (p.Arg634Lys) single nucleotide variant not provided [RCV002578754] Chr2:219235805 [GRCh38]
Chr2:220100527 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1669G>A (p.Ala557Thr) single nucleotide variant not provided [RCV002715345] Chr2:219235290 [GRCh38]
Chr2:220100012 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1176G>T (p.Leu392=) single nucleotide variant not provided [RCV003047759] Chr2:219234260 [GRCh38]
Chr2:220098982 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.51T>G (p.Phe17Leu) single nucleotide variant Inborn genetic diseases [RCV002900911] Chr2:219230308 [GRCh38]
Chr2:220095030 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1012C>G (p.Arg338Gly) single nucleotide variant not provided [RCV002650408] Chr2:219233907 [GRCh38]
Chr2:220098629 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1972-14C>T single nucleotide variant not provided [RCV002650412] Chr2:219235996 [GRCh38]
Chr2:220100718 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.148+3A>G single nucleotide variant not provided [RCV002807062] Chr2:219230408 [GRCh38]
Chr2:220095130 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2057+12G>A single nucleotide variant not provided [RCV002631277] Chr2:219236107 [GRCh38]
Chr2:220100829 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.473C>T (p.Pro158Leu) single nucleotide variant not provided [RCV002601386] Chr2:219232598 [GRCh38]
Chr2:220097320 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1841dup (p.Ala615fs) duplication not provided [RCV002810502] Chr2:219235744..219235745 [GRCh38]
Chr2:220100466..220100467 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.951G>A (p.Gly317=) single nucleotide variant not provided [RCV003027235] Chr2:219233846 [GRCh38]
Chr2:220098568 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1237G>A (p.Val413Ile) single nucleotide variant not provided [RCV002810684] Chr2:219234858 [GRCh38]
Chr2:220099580 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1080C>T (p.His360=) single nucleotide variant not provided [RCV002629016] Chr2:219234164 [GRCh38]
Chr2:220098886 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1656T>C (p.Arg552=) single nucleotide variant not provided [RCV002834262] Chr2:219235277 [GRCh38]
Chr2:220099999 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.342C>A (p.Asp114Glu) single nucleotide variant not provided [RCV002579306] Chr2:219232340 [GRCh38]
Chr2:220097062 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.536G>A (p.Arg179His) single nucleotide variant not provided [RCV002745914] Chr2:219232661 [GRCh38]
Chr2:220097383 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1748A>C (p.Glu583Ala) single nucleotide variant not provided [RCV003063724] Chr2:219235530 [GRCh38]
Chr2:220100252 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.148G>A (p.Gly50Ser) single nucleotide variant not provided [RCV002942736] Chr2:219230405 [GRCh38]
Chr2:220095127 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2049C>T (p.Val683=) single nucleotide variant not provided [RCV002722130] Chr2:219236087 [GRCh38]
Chr2:220100809 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.88_103del (p.Ser30fs) deletion not provided [RCV002943714] Chr2:219230344..219230359 [GRCh38]
Chr2:220095066..220095081 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.741G>A (p.Gly247=) single nucleotide variant not provided [RCV002635526] Chr2:219233355 [GRCh38]
Chr2:220098077 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.761G>A (p.Gly254Glu) single nucleotide variant not provided [RCV002582372] Chr2:219233375 [GRCh38]
Chr2:220098097 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.123C>T (p.Ala41=) single nucleotide variant not provided [RCV002588823] Chr2:219230380 [GRCh38]
Chr2:220095102 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1156A>G (p.Arg386Gly) single nucleotide variant not provided [RCV003069126] Chr2:219234240 [GRCh38]
Chr2:220098962 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1106_1109del (p.Val369fs) deletion not provided [RCV003049819] Chr2:219234188..219234191 [GRCh38]
Chr2:220098910..220098913 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.153_154del (p.Glu55fs) deletion not provided [RCV002586934] Chr2:219231932..219231933 [GRCh38]
Chr2:220096654..220096655 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1998C>T (p.Leu666=) single nucleotide variant not provided [RCV002587024] Chr2:219236036 [GRCh38]
Chr2:220100758 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1214C>T (p.Ser405Leu) single nucleotide variant Inborn genetic diseases [RCV002589804]|not provided [RCV002589803] Chr2:219234835 [GRCh38]
Chr2:220099557 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.272A>G (p.Tyr91Cys) single nucleotide variant not provided [RCV002588269] Chr2:219232270 [GRCh38]
Chr2:220096992 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1753C>T (p.Arg585Ter) single nucleotide variant not provided [RCV002585565] Chr2:219235535 [GRCh38]
Chr2:220100257 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.661A>G (p.Ile221Val) single nucleotide variant not provided [RCV003092983] Chr2:219233181 [GRCh38]
Chr2:220097903 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.672-10C>G single nucleotide variant not provided [RCV002612986] Chr2:219233276 [GRCh38]
Chr2:220097998 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.533A>G (p.Tyr178Cys) single nucleotide variant not provided [RCV002607309] Chr2:219232658 [GRCh38]
Chr2:220097380 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1286A>G (p.Glu429Gly) single nucleotide variant not provided [RCV002603475] Chr2:219234907 [GRCh38]
Chr2:220099629 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.59G>A (p.Ser20Asn) single nucleotide variant not provided [RCV002586792] Chr2:219230316 [GRCh38]
Chr2:220095038 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1990C>T (p.Arg664Cys) single nucleotide variant not provided [RCV002658081] Chr2:219236028 [GRCh38]
Chr2:220100750 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.193C>T (p.Pro65Ser) single nucleotide variant not provided [RCV002725967] Chr2:219231972 [GRCh38]
Chr2:220096694 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.467G>A (p.Arg156Gln) single nucleotide variant Inborn genetic diseases [RCV003192550]|not provided [RCV003779652] Chr2:219232592 [GRCh38]
Chr2:220097314 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_018089.3(ANKZF1):c.1317A>T (p.Arg439Ser) single nucleotide variant Inborn genetic diseases [RCV003218348] Chr2:219234938 [GRCh38]
Chr2:220099660 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_018089.3(ANKZF1):c.1182G>T (p.Gln394His) single nucleotide variant Inborn genetic diseases [RCV003359337]|not provided [RCV003777537] Chr2:219234266 [GRCh38]
Chr2:220098988 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.877A>G (p.Thr293Ala) single nucleotide variant ANKZF1-related condition [RCV003420909] Chr2:219233772 [GRCh38]
Chr2:220098494 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.400G>T (p.Asp134Tyr) single nucleotide variant Inborn genetic diseases [RCV003383981] Chr2:219232525 [GRCh38]
Chr2:220097247 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.194C>G (p.Pro65Arg) single nucleotide variant not provided [RCV003691073] Chr2:219231973 [GRCh38]
Chr2:220096695 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.483_484insTAAA (p.Pro162Ter) insertion not provided [RCV003571606] Chr2:219232608..219232609 [GRCh38]
Chr2:220097330..220097331 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.330G>C (p.Leu110=) single nucleotide variant not provided [RCV003874464] Chr2:219232328 [GRCh38]
Chr2:220097050 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2081C>T (p.Ser694Phe) single nucleotide variant not provided [RCV003872763] Chr2:219236345 [GRCh38]
Chr2:220101067 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_018089.3(ANKZF1):c.659C>G (p.Ala220Gly) single nucleotide variant ANKZF1-related condition [RCV003418939] Chr2:219233179 [GRCh38]
Chr2:220097901 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.842G>C (p.Gly281Ala) single nucleotide variant ANKZF1-related condition [RCV003404592] Chr2:219233737 [GRCh38]
Chr2:220098459 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1861_1863del (p.Gln621del) deletion not provided [RCV003826852] Chr2:219235763..219235765 [GRCh38]
Chr2:220100485..220100487 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1803+2_1803+9del deletion not provided [RCV003695575] Chr2:219235585..219235592 [GRCh38]
Chr2:220100307..220100314 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.820-1G>T single nucleotide variant not provided [RCV003579279] Chr2:219233714 [GRCh38]
Chr2:220098436 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1684A>C (p.Thr562Pro) single nucleotide variant not provided [RCV003579511] Chr2:219235305 [GRCh38]
Chr2:220100027 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1873C>T (p.Arg625Trp) single nucleotide variant not provided [RCV003829465] Chr2:219235777 [GRCh38]
Chr2:220100499 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1804-6C>T single nucleotide variant not provided [RCV003713518] Chr2:219235702 [GRCh38]
Chr2:220100424 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1036T>C (p.Leu346=) single nucleotide variant not provided [RCV003826470] Chr2:219233931 [GRCh38]
Chr2:220098653 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1972-2A>C single nucleotide variant not provided [RCV003848967] Chr2:219236008 [GRCh38]
Chr2:220100730 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.745C>T (p.Arg249Trp) single nucleotide variant not provided [RCV003695440] Chr2:219233359 [GRCh38]
Chr2:220098081 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.161G>A (p.Arg54Lys) single nucleotide variant not provided [RCV003578452] Chr2:219231940 [GRCh38]
Chr2:220096662 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.939C>T (p.Pro313=) single nucleotide variant not provided [RCV003577177] Chr2:219233834 [GRCh38]
Chr2:220098556 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.861G>A (p.Ala287=) single nucleotide variant not provided [RCV003662750] Chr2:219233756 [GRCh38]
Chr2:220098478 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.991C>T (p.Pro331Ser) single nucleotide variant not provided [RCV003716496] Chr2:219233886 [GRCh38]
Chr2:220098608 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.58A>G (p.Ser20Gly) single nucleotide variant not provided [RCV003692100] Chr2:219230315 [GRCh38]
Chr2:220095037 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2155C>T (p.Arg719Cys) single nucleotide variant not provided [RCV003880564] Chr2:219236419 [GRCh38]
Chr2:220101141 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.737del (p.Gln246fs) deletion not provided [RCV003689387] Chr2:219233351 [GRCh38]
Chr2:220098073 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.246G>A (p.Gln82=) single nucleotide variant not provided [RCV003690421] Chr2:219232025 [GRCh38]
Chr2:220096747 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1702G>T (p.Ala568Ser) single nucleotide variant not provided [RCV003830579] Chr2:219235484 [GRCh38]
Chr2:220100206 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1633G>A (p.Ala545Thr) single nucleotide variant not provided [RCV003663016] Chr2:219235254 [GRCh38]
Chr2:220099976 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1748A>G (p.Glu583Gly) single nucleotide variant not provided [RCV003686727] Chr2:219235530 [GRCh38]
Chr2:220100252 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2135G>A (p.Arg712His) single nucleotide variant not provided [RCV003659879] Chr2:219236399 [GRCh38]
Chr2:220101121 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1034C>T (p.Thr345Ile) single nucleotide variant not provided [RCV003661121] Chr2:219233929 [GRCh38]
Chr2:220098651 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1505G>A (p.Cys502Tyr) single nucleotide variant not provided [RCV003695972] Chr2:219235126 [GRCh38]
Chr2:220099848 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2069G>A (p.Ser690Asn) single nucleotide variant not provided [RCV003689699] Chr2:219236333 [GRCh38]
Chr2:220101055 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.262-1del deletion not provided [RCV003574515] Chr2:219232259 [GRCh38]
Chr2:220096981 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1053_1054delinsCC (p.Glu351_Asp352delinsAspHis) indel not provided [RCV003824806] Chr2:219234137..219234138 [GRCh38]
Chr2:220098859..220098860 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2057G>A (p.Arg686Gln) single nucleotide variant not provided [RCV003573685] Chr2:219236095 [GRCh38]
Chr2:220100817 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.310C>T (p.Leu104Phe) single nucleotide variant not provided [RCV003572744] Chr2:219232308 [GRCh38]
Chr2:220097030 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1151T>C (p.Ile384Thr) single nucleotide variant not provided [RCV003691880] Chr2:219234235 [GRCh38]
Chr2:220098957 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1692-2A>T single nucleotide variant not provided [RCV003878460] Chr2:219235472 [GRCh38]
Chr2:220100194 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1666G>T (p.Glu556Ter) single nucleotide variant not provided [RCV003575494] Chr2:219235287 [GRCh38]
Chr2:220100009 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1547C>T (p.Pro516Leu) single nucleotide variant not provided [RCV003689201] Chr2:219235168 [GRCh38]
Chr2:220099890 [GRCh37]
Chr2:2q35
uncertain significance
NC_000002.12:g.219233284AGA[1] microsatellite not provided [RCV003545392] Chr2:219233284..219233286 [GRCh38]
Chr2:220098006..220098008 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1956C>T (p.Leu652=) single nucleotide variant not provided [RCV003547568] Chr2:219235860 [GRCh38]
Chr2:220100582 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.879A>G (p.Thr293=) single nucleotide variant not provided [RCV003686745] Chr2:219233774 [GRCh38]
Chr2:220098496 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1804-4C>A single nucleotide variant not provided [RCV003811201] Chr2:219235704 [GRCh38]
Chr2:220100426 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1642G>A (p.Gly548Ser) single nucleotide variant not provided [RCV003548061] Chr2:219235263 [GRCh38]
Chr2:220099985 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.444G>A (p.Arg148=) single nucleotide variant not provided [RCV003849752] Chr2:219232569 [GRCh38]
Chr2:220097291 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2068A>C (p.Ser690Arg) single nucleotide variant not provided [RCV003698219] Chr2:219236332 [GRCh38]
Chr2:220101054 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1313G>A (p.Arg438Lys) single nucleotide variant not provided [RCV003698255] Chr2:219234934 [GRCh38]
Chr2:220099656 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.261+4A>G single nucleotide variant not provided [RCV003664172] Chr2:219232044 [GRCh38]
Chr2:220096766 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1137A>G (p.Glu379=) single nucleotide variant not provided [RCV003559432] Chr2:219234221 [GRCh38]
Chr2:220098943 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1804-1G>A single nucleotide variant not provided [RCV003811202] Chr2:219235707 [GRCh38]
Chr2:220100429 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1803+6C>G single nucleotide variant not provided [RCV003658922] Chr2:219235591 [GRCh38]
Chr2:220100313 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.153A>G (p.Ser51=) single nucleotide variant not provided [RCV003668389] Chr2:219231932 [GRCh38]
Chr2:220096654 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2057+19G>A single nucleotide variant not provided [RCV003674279] Chr2:219236114 [GRCh38]
Chr2:220100836 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1942C>T (p.Arg648Ter) single nucleotide variant not provided [RCV003849955] Chr2:219235846 [GRCh38]
Chr2:220100568 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.159G>C (p.Glu53Asp) single nucleotide variant not provided [RCV003580821] Chr2:219231938 [GRCh38]
Chr2:220096660 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1154_1156delinsTAC (p.Cys385Leu) indel not provided [RCV003839921] Chr2:219234238..219234240 [GRCh38]
Chr2:220098960..220098962 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.247A>G (p.Asn83Asp) single nucleotide variant not provided [RCV003703377] Chr2:219232026 [GRCh38]
Chr2:220096748 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1904A>G (p.Gln635Arg) single nucleotide variant not provided [RCV003856214] Chr2:219235808 [GRCh38]
Chr2:220100530 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1891C>G (p.Gln631Glu) single nucleotide variant not provided [RCV003659708] Chr2:219235795 [GRCh38]
Chr2:220100517 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.10G>T (p.Ala4Ser) single nucleotide variant not provided [RCV003723192] Chr2:219230267 [GRCh38]
Chr2:220094989 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.594C>A (p.Asn198Lys) single nucleotide variant not provided [RCV003561877] Chr2:219233114 [GRCh38]
Chr2:220097836 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1963C>T (p.Arg655Ter) single nucleotide variant not provided [RCV003838480] Chr2:219235867 [GRCh38]
Chr2:220100589 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2058-12C>G single nucleotide variant not provided [RCV003673127] Chr2:219236310 [GRCh38]
Chr2:220101032 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1972-13T>A single nucleotide variant not provided [RCV003833473] Chr2:219235997 [GRCh38]
Chr2:220100719 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.875G>A (p.Gly292Asp) single nucleotide variant not provided [RCV003668626] Chr2:219233770 [GRCh38]
Chr2:220098492 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.641C>G (p.Ala214Gly) single nucleotide variant not provided [RCV003668671] Chr2:219233161 [GRCh38]
Chr2:220097883 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1252del (p.Val418fs) deletion not provided [RCV003702964] Chr2:219234873 [GRCh38]
Chr2:220099595 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1433C>T (p.Pro478Leu) single nucleotide variant not provided [RCV003667215] Chr2:219235054 [GRCh38]
Chr2:220099776 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1448T>C (p.Leu483Pro) single nucleotide variant not provided [RCV003699775] Chr2:219235069 [GRCh38]
Chr2:220099791 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.54C>T (p.Asp18=) single nucleotide variant not provided [RCV003667772] Chr2:219230311 [GRCh38]
Chr2:220095033 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1048+11G>T single nucleotide variant not provided [RCV003837753] Chr2:219233954 [GRCh38]
Chr2:220098676 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1145_1147del (p.Arg382del) deletion not provided [RCV003548515] Chr2:219234227..219234229 [GRCh38]
Chr2:220098949..220098951 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1915GAG[1] (p.Glu640del) microsatellite not provided [RCV003558217] Chr2:219235817..219235819 [GRCh38]
Chr2:220100539..220100541 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2053A>G (p.Thr685Ala) single nucleotide variant not provided [RCV003836567] Chr2:219236091 [GRCh38]
Chr2:220100813 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.672-12_672-11del microsatellite not provided [RCV003850934] Chr2:219233272..219233273 [GRCh38]
Chr2:220097994..220097995 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1204+3T>G single nucleotide variant not provided [RCV003705784] Chr2:219234291 [GRCh38]
Chr2:220099013 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1392A>G (p.Glu464=) single nucleotide variant not provided [RCV003677984] Chr2:219235013 [GRCh38]
Chr2:220099735 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1049-3C>A single nucleotide variant not provided [RCV003706403] Chr2:219234130 [GRCh38]
Chr2:220098852 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1161T>C (p.Asp387=) single nucleotide variant not provided [RCV003729230] Chr2:219234245 [GRCh38]
Chr2:220098967 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1714T>C (p.Tyr572His) single nucleotide variant not provided [RCV003554289] Chr2:219235496 [GRCh38]
Chr2:220100218 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.320A>G (p.Lys107Arg) single nucleotide variant not provided [RCV003706086] Chr2:219232318 [GRCh38]
Chr2:220097040 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.820-1G>C single nucleotide variant not provided [RCV003710369] Chr2:219233714 [GRCh38]
Chr2:220098436 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1630G>A (p.Ala544Thr) single nucleotide variant not provided [RCV003706798] Chr2:219235251 [GRCh38]
Chr2:220099973 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.538T>C (p.Cys180Arg) single nucleotide variant not provided [RCV003709521] Chr2:219232663 [GRCh38]
Chr2:220097385 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.671+16A>C single nucleotide variant not provided [RCV003677661] Chr2:219233207 [GRCh38]
Chr2:220097929 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.248A>C (p.Asn83Thr) single nucleotide variant not provided [RCV003858880] Chr2:219232027 [GRCh38]
Chr2:220096749 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1696T>C (p.Ser566Pro) single nucleotide variant not provided [RCV003567042] Chr2:219235478 [GRCh38]
Chr2:220100200 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003860543] Chr2:219230258 [GRCh38]
Chr2:220094980 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1199A>G (p.Lys400Arg) single nucleotide variant not provided [RCV003682247] Chr2:219234283 [GRCh38]
Chr2:220099005 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.672-14T>C single nucleotide variant not provided [RCV003564098] Chr2:219233272 [GRCh38]
Chr2:220097994 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.603T>C (p.Ser201=) single nucleotide variant not provided [RCV003821597] Chr2:219233123 [GRCh38]
Chr2:220097845 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1204+12A>G single nucleotide variant not provided [RCV003705785] Chr2:219234300 [GRCh38]
Chr2:220099022 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.2104C>A (p.His702Asn) single nucleotide variant not provided [RCV003564465] Chr2:219236368 [GRCh38]
Chr2:220101090 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1147A>C (p.Lys383Gln) single nucleotide variant not provided [RCV003563766] Chr2:219234231 [GRCh38]
Chr2:220098953 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.26dup (p.Ala10fs) duplication not provided [RCV003859327] Chr2:219230279..219230280 [GRCh38]
Chr2:220095001..220095002 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1726G>A (p.Ala576Thr) single nucleotide variant not provided [RCV003824272] Chr2:219235508 [GRCh38]
Chr2:220100230 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.736C>T (p.Gln246Ter) single nucleotide variant not provided [RCV003682446] Chr2:219233350 [GRCh38]
Chr2:220098072 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.236A>G (p.Gln79Arg) single nucleotide variant not provided [RCV003861881] Chr2:219232015 [GRCh38]
Chr2:220096737 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV003862045] Chr2:219233904 [GRCh38]
Chr2:220098626 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1540C>T (p.Leu514=) single nucleotide variant not provided [RCV003707047] Chr2:219235161 [GRCh38]
Chr2:220099883 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.551C>G (p.Pro184Arg) single nucleotide variant not provided [RCV003863781] Chr2:219232676 [GRCh38]
Chr2:220097398 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1985C>T (p.Ala662Val) single nucleotide variant not provided [RCV003568489] Chr2:219236023 [GRCh38]
Chr2:220100745 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.671+10_671+11delinsGC indel not provided [RCV003682188] Chr2:219233201..219233202 [GRCh38]
Chr2:220097923..220097924 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1389A>G (p.Gln463=) single nucleotide variant not provided [RCV003865204] Chr2:219235010 [GRCh38]
Chr2:220099732 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.157G>A (p.Glu53Lys) single nucleotide variant not provided [RCV003685864] Chr2:219231936 [GRCh38]
Chr2:220096658 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1964G>A (p.Arg655Gln) single nucleotide variant not provided [RCV003737233] Chr2:219235868 [GRCh38]
Chr2:220100590 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1963C>G (p.Arg655Gly) single nucleotide variant not provided [RCV003684083] Chr2:219235867 [GRCh38]
Chr2:220100589 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1345G>A (p.Asp449Asn) single nucleotide variant not provided [RCV003858174] Chr2:219234966 [GRCh38]
Chr2:220099688 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.913T>C (p.Leu305=) single nucleotide variant not provided [RCV003684263] Chr2:219233808 [GRCh38]
Chr2:220098530 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1803+8G>A single nucleotide variant not provided [RCV003723046] Chr2:219235593 [GRCh38]
Chr2:220100315 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.149-20A>G single nucleotide variant not provided [RCV003857426] Chr2:219231908 [GRCh38]
Chr2:220096630 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1394A>G (p.Glu465Gly) single nucleotide variant not provided [RCV003732253] Chr2:219235015 [GRCh38]
Chr2:220099737 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.2160G>A (p.Gln720=) single nucleotide variant not provided [RCV003542013] Chr2:219236424 [GRCh38]
Chr2:220101146 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.699T>C (p.Phe233=) single nucleotide variant not provided [RCV003870182] Chr2:219233313 [GRCh38]
Chr2:220098035 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1833G>C (p.Glu611Asp) single nucleotide variant not provided [RCV003720061] Chr2:219235737 [GRCh38]
Chr2:220100459 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1072dup (p.Arg358fs) duplication not provided [RCV003675551] Chr2:219234155..219234156 [GRCh38]
Chr2:220098877..220098878 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.403T>C (p.Ser135Pro) single nucleotide variant not provided [RCV003868432] Chr2:219232528 [GRCh38]
Chr2:220097250 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.204T>C (p.Ile68=) single nucleotide variant not provided [RCV003551575] Chr2:219231983 [GRCh38]
Chr2:220096705 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1476A>G (p.Pro492=) single nucleotide variant not provided [RCV003705105] Chr2:219235097 [GRCh38]
Chr2:220099819 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1733A>C (p.Lys578Thr) single nucleotide variant not provided [RCV003719363] Chr2:219235515 [GRCh38]
Chr2:220100237 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1330A>G (p.Lys444Glu) single nucleotide variant not provided [RCV003677329] Chr2:219234951 [GRCh38]
Chr2:220099673 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1658T>G (p.Leu553Arg) single nucleotide variant not provided [RCV003706890] Chr2:219235279 [GRCh38]
Chr2:220100001 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.535dup (p.Arg179fs) duplication not provided [RCV003729302] Chr2:219232658..219232659 [GRCh38]
Chr2:220097380..220097381 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.794G>A (p.Arg265His) single nucleotide variant not provided [RCV003733390] Chr2:219233408 [GRCh38]
Chr2:220098130 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.148+11A>T single nucleotide variant not provided [RCV003679547] Chr2:219230416 [GRCh38]
Chr2:220095138 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.897C>A (p.Pro299=) single nucleotide variant not provided [RCV003862198] Chr2:219233792 [GRCh38]
Chr2:220098514 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1253T>C (p.Val418Ala) single nucleotide variant not provided [RCV003820712] Chr2:219234874 [GRCh38]
Chr2:220099596 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1518T>C (p.Asp506=) single nucleotide variant not provided [RCV003709181] Chr2:219235139 [GRCh38]
Chr2:220099861 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1388A>T (p.Gln463Leu) single nucleotide variant not provided [RCV003729630] Chr2:219235009 [GRCh38]
Chr2:220099731 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1625C>T (p.Ala542Val) single nucleotide variant not provided [RCV003681531] Chr2:219235246 [GRCh38]
Chr2:220099968 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1576C>T (p.Leu526=) single nucleotide variant not provided [RCV003712354] Chr2:219235197 [GRCh38]
Chr2:220099919 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1837C>T (p.Arg613Trp) single nucleotide variant not provided [RCV003731159] Chr2:219235741 [GRCh38]
Chr2:220100463 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.365-12G>A single nucleotide variant not provided [RCV003681584] Chr2:219232478 [GRCh38]
Chr2:220097200 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.432G>A (p.Leu144=) single nucleotide variant not provided [RCV003565261] Chr2:219232557 [GRCh38]
Chr2:220097279 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.1933G>T (p.Glu645Ter) single nucleotide variant not provided [RCV003675111] Chr2:219235837 [GRCh38]
Chr2:220100559 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1821A>G (p.Thr607=) single nucleotide variant not provided [RCV003860277] Chr2:219235725 [GRCh38]
Chr2:220100447 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.148+6_148+17del deletion not provided [RCV003863740] Chr2:219230409..219230420 [GRCh38]
Chr2:220095131..220095142 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.262-15_262-14del deletion not provided [RCV003858787] Chr2:219232244..219232245 [GRCh38]
Chr2:220096966..220096967 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.94G>C (p.Val32Leu) single nucleotide variant not provided [RCV003711085] Chr2:219230351 [GRCh38]
Chr2:220095073 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1108A>C (p.Arg370=) single nucleotide variant ANKZF1-related condition [RCV003896743] Chr2:219234192 [GRCh38]
Chr2:220098914 [GRCh37]
Chr2:2q35
likely benign
NM_018089.3(ANKZF1):c.716G>A (p.Arg239Gln) single nucleotide variant ANKZF1-related condition [RCV003981617] Chr2:219233330 [GRCh38]
Chr2:220098052 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1177G>C (p.Gly393Arg) single nucleotide variant ANKZF1-related condition [RCV003983566] Chr2:219234261 [GRCh38]
Chr2:220098983 [GRCh37]
Chr2:2q35
uncertain significance
NM_018089.3(ANKZF1):c.1237G>T (p.Val413Leu) single nucleotide variant ANKZF1-related condition [RCV003944555] Chr2:219234858 [GRCh38]
Chr2:220099580 [GRCh37]
Chr2:2q35
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4846
Count of miRNA genes:1099
Interacting mature miRNAs:1395
Transcripts:ENST00000323348, ENST00000409849, ENST00000410034, ENST00000416565, ENST00000435521, ENST00000436226, ENST00000447157, ENST00000453432, ENST00000460966, ENST00000461731, ENST00000463792, ENST00000464763, ENST00000465550, ENST00000467884, ENST00000468387, ENST00000474225, ENST00000475202, ENST00000477479, ENST00000483188, ENST00000486203, ENST00000489580, ENST00000490526, ENST00000491181, ENST00000493563, ENST00000494886, ENST00000496346
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-32531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,101,353 - 220,101,477UniSTSGRCh37
Build 362219,809,597 - 219,809,721RGDNCBI36
Celera2213,871,060 - 213,871,184RGD
Cytogenetic Map2q35UniSTS
HuRef2211,954,262 - 211,954,386UniSTS
Stanford-G3 RH Map28605.0UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
Whitehead-RH Map21011.0UniSTS
NCBI RH Map21772.3UniSTS
GeneMap99-G3 RH Map29444.0UniSTS
WI-15771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,101,224 - 220,101,350UniSTSGRCh37
Build 362219,809,468 - 219,809,594RGDNCBI36
Celera2213,870,931 - 213,871,057RGD
Cytogenetic Map2q35UniSTS
HuRef2211,954,133 - 211,954,259UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
Whitehead-RH Map21008.9UniSTS
NCBI RH Map21757.4UniSTS
RH12093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,099,238 - 220,099,369UniSTSGRCh37
Build 362219,807,482 - 219,807,613RGDNCBI36
Celera2213,868,945 - 213,869,076RGD
Cytogenetic Map2q35UniSTS
HuRef2211,952,147 - 211,952,278UniSTS
GeneMap99-GB4 RH Map2683.85UniSTS
D2S1807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,095,267 - 220,095,371UniSTSGRCh37
Build 362219,803,511 - 219,803,615RGDNCBI36
Celera2213,864,974 - 213,865,078RGD
Cytogenetic Map2q35UniSTS
HuRef2211,948,425 - 211,948,529UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
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Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2420 2816 1621 531 1915 372 4256 1993 3285 317 1439 1588 174 1 1173 2704 5 2
Low 19 175 105 93 36 93 101 204 449 102 21 25 31 84 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA482007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF364318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA226194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA899467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ412564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000323348   ⟹   ENSP00000321617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,806 - 219,236,679 (+)Ensembl
RefSeq Acc Id: ENST00000409849   ⟹   ENSP00000386815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,787 - 219,236,669 (+)Ensembl
RefSeq Acc Id: ENST00000410034   ⟹   ENSP00000386337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,888 - 219,236,649 (+)Ensembl
RefSeq Acc Id: ENST00000416565   ⟹   ENSP00000406514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,885 - 219,232,013 (+)Ensembl
RefSeq Acc Id: ENST00000435521   ⟹   ENSP00000404113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,838 - 219,233,116 (+)Ensembl
RefSeq Acc Id: ENST00000436226   ⟹   ENSP00000394652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,959 - 219,232,270 (+)Ensembl
RefSeq Acc Id: ENST00000447157   ⟹   ENSP00000399667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,896 - 219,232,547 (+)Ensembl
RefSeq Acc Id: ENST00000453432   ⟹   ENSP00000394359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,783 - 219,232,666 (+)Ensembl
RefSeq Acc Id: ENST00000460966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,235,645 - 219,236,651 (+)Ensembl
RefSeq Acc Id: ENST00000461731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,806 - 219,234,693 (+)Ensembl
RefSeq Acc Id: ENST00000463792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,838 - 219,236,651 (+)Ensembl
RefSeq Acc Id: ENST00000464763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,783 - 219,230,756 (+)Ensembl
RefSeq Acc Id: ENST00000465550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,230,625 - 219,234,722 (+)Ensembl
RefSeq Acc Id: ENST00000467884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,806 - 219,234,349 (+)Ensembl
RefSeq Acc Id: ENST00000468387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,233,667 - 219,234,416 (+)Ensembl
RefSeq Acc Id: ENST00000474225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,806 - 219,233,463 (+)Ensembl
RefSeq Acc Id: ENST00000475202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,806 - 219,232,970 (+)Ensembl
RefSeq Acc Id: ENST00000477479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,827 - 219,236,618 (+)Ensembl
RefSeq Acc Id: ENST00000483188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,235,151 - 219,235,801 (+)Ensembl
RefSeq Acc Id: ENST00000486203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,847 - 219,233,034 (+)Ensembl
RefSeq Acc Id: ENST00000489580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,231,844 - 219,232,759 (+)Ensembl
RefSeq Acc Id: ENST00000490526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,232,313 - 219,233,444 (+)Ensembl
RefSeq Acc Id: ENST00000491181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,230,236 - 219,232,781 (+)Ensembl
RefSeq Acc Id: ENST00000493563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,232,182 - 219,232,879 (+)Ensembl
RefSeq Acc Id: ENST00000494886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,232,898 - 219,233,766 (+)Ensembl
RefSeq Acc Id: ENST00000496346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,229,835 - 219,234,672 (+)Ensembl
RefSeq Acc Id: NM_001042410   ⟹   NP_001035869
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,236,679 (+)NCBI
GRCh372220,094,479 - 220,101,391 (+)RGD
GRCh372220,094,479 - 220,101,391 (+)NCBI
Build 362219,802,854 - 219,809,635 (+)NCBI Archive
Celera2213,864,186 - 213,871,098 (+)RGD
HuRef2211,947,637 - 211,954,300 (+)ENTREZGENE
CHM1_12220,100,446 - 220,107,227 (+)NCBI
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282792   ⟹   NP_001269721
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,236,679 (+)NCBI
HuRef2211,947,637 - 211,954,300 (+)NCBI
CHM1_12220,100,315 - 220,107,227 (+)NCBI
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018089   ⟹   NP_060559
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,236,679 (+)NCBI
GRCh372220,094,479 - 220,101,391 (+)RGD
GRCh372220,094,479 - 220,101,391 (+)NCBI
Build 362219,802,723 - 219,809,635 (+)NCBI Archive
Celera2213,864,186 - 213,871,098 (+)RGD
HuRef2211,947,637 - 211,954,300 (+)ENTREZGENE
CHM1_12220,100,315 - 220,107,227 (+)NCBI
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246663   ⟹   XP_005246720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,230,248 - 219,236,679 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511392   ⟹   XP_011509694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,236,679 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004421   ⟹   XP_016859910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,235,875 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444864   ⟹   XP_047300820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,235,771 (+)NCBI
RefSeq Acc Id: XM_047444865   ⟹   XP_047300821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,235,831 (+)NCBI
RefSeq Acc Id: XM_047444866   ⟹   XP_047300822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,806 - 219,235,858 (+)NCBI
RefSeq Acc Id: XM_054342737   ⟹   XP_054198712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,714,571 - 219,721,444 (+)NCBI
RefSeq Acc Id: XM_054342738   ⟹   XP_054198713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,715,013 - 219,721,444 (+)NCBI
RefSeq Acc Id: XM_054342739   ⟹   XP_054198714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,714,571 - 219,720,536 (+)NCBI
RefSeq Acc Id: XM_054342740   ⟹   XP_054198715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,714,571 - 219,720,596 (+)NCBI
RefSeq Acc Id: XM_054342741   ⟹   XP_054198716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,714,571 - 219,720,640 (+)NCBI
RefSeq Acc Id: XM_054342742   ⟹   XP_054198717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,714,571 - 219,720,623 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001035869 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269721 (Get FASTA)   NCBI Sequence Viewer  
  NP_060559 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246720 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509694 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859910 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300820 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300821 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300822 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198717 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00238 (Get FASTA)   NCBI Sequence Viewer  
  AAH08948 (Get FASTA)   NCBI Sequence Viewer  
  ABD65410 (Get FASTA)   NCBI Sequence Viewer  
  BAA91596 (Get FASTA)   NCBI Sequence Viewer  
  BAB14462 (Get FASTA)   NCBI Sequence Viewer  
  BAG64193 (Get FASTA)   NCBI Sequence Viewer  
  BAG64563 (Get FASTA)   NCBI Sequence Viewer  
  EAW70708 (Get FASTA)   NCBI Sequence Viewer  
  EAW70709 (Get FASTA)   NCBI Sequence Viewer  
  EAW70710 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000321617
  ENSP00000321617.5
  ENSP00000386337
  ENSP00000386337.3
  ENSP00000386815
  ENSP00000386815.1
  ENSP00000394359.1
  ENSP00000394652.1
  ENSP00000399667.1
  ENSP00000404113.1
  ENSP00000406514.1
GenBank Protein Q9H8Y5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060559   ⟸   NM_018089
- Peptide Label: isoform 1
- UniProtKB: Q9NVZ4 (UniProtKB/Swiss-Prot),   Q9H8Y5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035869   ⟸   NM_001042410
- Peptide Label: isoform 1
- UniProtKB: Q9NVZ4 (UniProtKB/Swiss-Prot),   Q9H8Y5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246720   ⟸   XM_005246663
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001269721   ⟸   NM_001282792
- Peptide Label: isoform 2
- UniProtKB: B8ZZS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509694   ⟸   XM_011511392
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859910   ⟸   XM_017004421
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000386337   ⟸   ENST00000410034
RefSeq Acc Id: ENSP00000394359   ⟸   ENST00000453432
RefSeq Acc Id: ENSP00000321617   ⟸   ENST00000323348
RefSeq Acc Id: ENSP00000406514   ⟸   ENST00000416565
RefSeq Acc Id: ENSP00000399667   ⟸   ENST00000447157
RefSeq Acc Id: ENSP00000386815   ⟸   ENST00000409849
RefSeq Acc Id: ENSP00000404113   ⟸   ENST00000435521
RefSeq Acc Id: ENSP00000394652   ⟸   ENST00000436226
RefSeq Acc Id: XP_047300822   ⟸   XM_047444866
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047300821   ⟸   XM_047444865
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047300820   ⟸   XM_047444864
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198712   ⟸   XM_054342737
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198716   ⟸   XM_054342741
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054198717   ⟸   XM_054342742
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054198715   ⟸   XM_054342740
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054198714   ⟸   XM_054342739
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198713   ⟸   XM_054342738
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H8Y5-F1-model_v2 AlphaFold Q9H8Y5 1-726 view protein structure

Promoters
RGD ID:6862896
Promoter ID:EPDNEW_H4613
Type:initiation region
Name:ANKZF1_1
Description:ankyrin repeat and zinc finger domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,838 - 219,229,898EPDNEW
RGD ID:6796796
Promoter ID:HG_KWN:37332
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409422,   ENST00000409618,   NM_001042410,   NM_018089,   OTTHUMT00000335791,   OTTHUMT00000335793,   OTTHUMT00000335794,   OTTHUMT00000335795,   OTTHUMT00000335796,   OTTHUMT00000335799,   OTTHUMT00000335800,   OTTHUMT00000335801,   OTTHUMT00000335802,   OTTHUMT00000335803,   OTTHUMT00000335804,   OTTHUMT00000335805,   OTTHUMT00000335806,   OTTHUMT00000335807,   OTTHUMT00000335808,   OTTHUMT00000335809,   OTTHUMT00000335810,   OTTHUMT00000335811,   OTTHUMT00000335812,   OTTHUMT00000335928,   OTTHUMT00000335933,   OTTHUMT00000335934,   OTTHUMT00000335935,   OTTHUMT00000335936,   OTTHUMT00000335937,   OTTHUMT00000335938,   OTTHUMT00000335939,   OTTHUMT00000335940,   OTTHUMT00000335941,   OTTHUMT00000335942,   OTTHUMT00000335943,   OTTHUMT00000335944,   OTTHUMT00000335945,   OTTHUMT00000335946,   UC002VKE.1,   UC002VKF.1,   UC002VKH.1,   UC002VKJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,802,621 - 219,803,332 (+)MPROMDB
RGD ID:6796784
Promoter ID:HG_KWN:37333
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000335813,   OTTHUMT00000335814
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,805,966 - 219,806,466 (+)MPROMDB
RGD ID:6796783
Promoter ID:HG_KWN:37334
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000335815,   OTTHUMT00000335816
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,808,466 - 219,808,966 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25527 AgrOrtholog
COSMIC ANKZF1 COSMIC
Ensembl Genes ENSG00000163516 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323348 ENTREZGENE
  ENST00000323348.10 UniProtKB/Swiss-Prot
  ENST00000409849 ENTREZGENE
  ENST00000409849.5 UniProtKB/TrEMBL
  ENST00000410034 ENTREZGENE
  ENST00000410034.7 UniProtKB/Swiss-Prot
  ENST00000416565.1 UniProtKB/TrEMBL
  ENST00000435521.5 UniProtKB/TrEMBL
  ENST00000436226.1 UniProtKB/TrEMBL
  ENST00000447157.5 UniProtKB/TrEMBL
  ENST00000453432.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163516 GTEx
HGNC ID HGNC:25527 ENTREZGENE
Human Proteome Map ANKZF1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANKZ1/VMS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VATC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VLRF1/Vms1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55139 UniProtKB/Swiss-Prot
NCBI Gene 55139 ENTREZGENE
OMIM 617541 OMIM
PANTHER ANKYRIN REPEAT AND ZINC FINGER DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  ANKYRIN REPEAT AND ZINC FINGER DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  ANKYRIN REPEAT AND ZINC FINGER DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  ANKYRIN REPEAT AND ZINC FINGER DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bVLRF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VATC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485305 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ANKZ1_HUMAN UniProtKB/Swiss-Prot
  B8ZZS4 ENTREZGENE, UniProtKB/TrEMBL
  C9J5H7_HUMAN UniProtKB/TrEMBL
  C9JQZ3_HUMAN UniProtKB/TrEMBL
  C9JS61_HUMAN UniProtKB/TrEMBL
  C9K022_HUMAN UniProtKB/TrEMBL
  F8WD44_HUMAN UniProtKB/TrEMBL
  Q9H8Y5 ENTREZGENE
  Q9NVZ4 ENTREZGENE
UniProt Secondary Q9NVZ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-30 ANKZF1  ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1    ankyrin repeat and zinc finger domain containing 1  Symbol and/or name change 5135510 APPROVED