ANKRD35 (ankyrin repeat domain 35) - Rat Genome Database

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Gene: ANKRD35 (ankyrin repeat domain 35) Homo sapiens
Analyze
Symbol: ANKRD35
Name: ankyrin repeat domain 35
RGD ID: 1352290
HGNC Page HGNC:26323
Description: Predicted to be involved in regulation of barbed-end actin filament capping. Predicted to be located in cytoplasm and nucleus; INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 17beta-estradiol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat domain-containing protein 35; FLJ25124; MGC126667; MGC126669
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,866,564 - 145,885,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,866,560 - 145,885,866 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,549,209 - 145,568,522 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,260,566 - 144,279,883 (+)NCBINCBI36Build 36hg18NCBI36
Build 341143,038,287 - 143,057,565NCBI
Celera1119,752,581 - 119,771,890 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1119,512,931 - 119,532,243 (+)NCBIHuRef
CHM1_11147,234,686 - 147,253,992 (-)NCBICHM1_1
T2T-CHM13v2.01144,983,377 - 145,002,686 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12107411   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16710414   PMID:21653829   PMID:21900206   PMID:25505242   PMID:26167880   PMID:27684187   PMID:31586073  
PMID:33203765   PMID:35944360   PMID:36732658  


Genomics

Comparative Map Data
ANKRD35
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381145,866,564 - 145,885,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1145,866,560 - 145,885,866 (-)EnsemblGRCh38hg38GRCh38
GRCh371145,549,209 - 145,568,522 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,260,566 - 144,279,883 (+)NCBINCBI36Build 36hg18NCBI36
Build 341143,038,287 - 143,057,565NCBI
Celera1119,752,581 - 119,771,890 (+)NCBICelera
Cytogenetic Map1q21.1NCBI
HuRef1119,512,931 - 119,532,243 (+)NCBIHuRef
CHM1_11147,234,686 - 147,253,992 (-)NCBICHM1_1
T2T-CHM13v2.01144,983,377 - 145,002,686 (-)NCBIT2T-CHM13v2.0
Ankrd35
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,577,447 - 96,598,350 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,577,447 - 96,598,348 (+)EnsemblGRCm39 Ensembl
GRCm38396,670,131 - 96,691,034 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,670,131 - 96,691,032 (+)EnsemblGRCm38mm10GRCm38
MGSCv37396,474,054 - 96,494,957 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36396,755,536 - 96,776,439 (+)NCBIMGSCv36mm8
Celera398,077,121 - 98,098,236 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map341.94NCBI
Ankrd35
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82186,895,896 - 186,915,903 (+)NCBIGRCr8
mRatBN7.22184,207,076 - 184,227,063 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2184,207,071 - 184,227,063 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02198,797,136 - 198,817,144 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,797,159 - 198,817,146 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02218,284,114 - 218,304,098 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42191,471,712 - 191,492,791 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12191,447,682 - 191,461,288 (+)NCBI
Celera2176,731,918 - 176,751,924 (+)NCBICelera
Cytogenetic Map2q34NCBI
Ankrd35
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955568204,482 - 222,258 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955568204,422 - 222,065 (+)NCBIChiLan1.0ChiLan1.0
ANKRD35
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21103,260,937 - 103,280,296 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11102,848,718 - 102,868,663 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01121,871,624 - 121,891,265 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11113,778,454 - 113,791,264 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1113,779,221 - 113,797,541 (-)Ensemblpanpan1.1panPan2
ANKRD35
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11758,665,626 - 58,682,761 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1758,665,905 - 58,682,398 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,134,200 - 58,151,010 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01759,662,873 - 59,679,813 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1759,662,827 - 59,679,945 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11758,535,617 - 58,552,557 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01758,596,748 - 58,613,687 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01759,323,177 - 59,340,112 (-)NCBIUU_Cfam_GSD_1.0
Ankrd35
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505820,740,536 - 20,757,441 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936867616,650 - 633,524 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936867616,653 - 633,499 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKRD35
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl499,442,901 - 99,460,868 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1499,441,264 - 99,460,877 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24109,085,344 - 109,102,967 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANKRD35
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12012,858,983 - 12,877,983 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2012,859,767 - 12,877,977 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603815,539,013 - 15,557,509 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankrd35
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477217,233,816 - 17,244,947 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477217,226,734 - 17,250,880 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKRD35
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000050972] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000050973] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22		 pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000052241] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|See cases [RCV000052242] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 copy number loss See cases [RCV000053728] Chr1:145335791..146944906 [GRCh38]
Chr1:145271814..147848311 [GRCh37]
Chr1:143983171..146314935 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 copy number loss See cases [RCV000053732] Chr1:145335791..146133507 [GRCh38]
Chr1:145304668..145738275 [GRCh37]
Chr1:144016025..144449632 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1 copy number loss See cases [RCV000053735] Chr1:145688094..146046645 [GRCh38]
Chr1:145388355..145746971 [GRCh37]
Chr1:144099712..144458328 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1 copy number loss See cases [RCV000053738] Chr1:145601946..146046645 [GRCh38]
Chr1:145388355..145917640 [GRCh37]
Chr1:144099712..144628997 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1 copy number loss See cases [RCV000053739] Chr1:145609216..146046645 [GRCh38]
Chr1:145388355..145825847 [GRCh37]
Chr1:144099712..144537204 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1 copy number loss See cases [RCV000053740] Chr1:145635445..146046645 [GRCh38]
Chr1:145388355..145799602 [GRCh37]
Chr1:144099712..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1 copy number loss See cases [RCV000053742] Chr1:145625047..146021303 [GRCh38]
Chr1:145413710..145810009 [GRCh37]
Chr1:144125067..144521366 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145833599-146009630)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053545]|See cases [RCV000053545] Chr1:145833599..146009630 [GRCh38]
Chr1:145425395..145601513 [GRCh37]
Chr1:144136752..144312870 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3 copy number gain See cases [RCV000053546] Chr1:145635445..145968427 [GRCh38]
Chr1:145466663..145799602 [GRCh37]
Chr1:144178020..144510959 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3 copy number gain See cases [RCV000053578] Chr1:143646638..146126442 [GRCh37]
Chr1:142438161..144837799 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 copy number gain See cases [RCV000053579] Chr1:145335791..146146477 [GRCh38]
Chr1:145291698..146037042 [GRCh37]
Chr1:144003055..144748399 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 copy number gain See cases [RCV000053580] Chr1:145335791..146127929 [GRCh38]
Chr1:145310253..145899398 [GRCh37]
Chr1:144021610..144610755 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000053581] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053582]|See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1		 pathogenic
NM_144698.4(ANKRD35):c.1253G>A (p.Gly418Glu) single nucleotide variant Malignant melanoma [RCV000059861] Chr1:145873516 [GRCh38]
Chr1:145561565 [GRCh37]
Chr1:144272922 [NCBI36]
Chr1:1q21.1		 not provided
NM_144698.4(ANKRD35):c.646G>A (p.Asp216Asn) single nucleotide variant Malignant melanoma [RCV000064116] Chr1:145874921 [GRCh38]
Chr1:145560160 [GRCh37]
Chr1:144271517 [NCBI36]
Chr1:1q21.1		 not provided
NM_144698.4(ANKRD35):c.2371G>A (p.Glu791Lys) single nucleotide variant Malignant melanoma [RCV000064117] Chr1:145872398 [GRCh38]
Chr1:145562683 [GRCh37]
Chr1:144274040 [NCBI36]
Chr1:1q21.1		 not provided
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3 copy number gain See cases [RCV000515605] Chr1:145416056..146089268 [GRCh37]
Chr1:1q21.1		 likely pathogenic
NC_000001.10:g.(?_145413072)_(145592772_145596903)del deletion Radial aplasia-thrombocytopenia syndrome [RCV000033867] Chr1:145413072..145592772 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 copy number loss See cases [RCV000053582] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3 copy number gain See cases [RCV000134116] Chr1:145635432..146019857 [GRCh38]
Chr1:145415156..145799615 [GRCh37]
Chr1:144126513..144510972 [NCBI36]
Chr1:1q21.1		 conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3 copy number gain See cases [RCV000135354] Chr1:145688153..146166380 [GRCh38]
Chr1:145271815..145746912 [GRCh37]
Chr1:143983172..144458269 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 copy number gain See cases [RCV000135720] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3 copy number gain See cases [RCV000135485] Chr1:145691625..146082575 [GRCh38]
Chr1:145311043..145743440 [GRCh37]
Chr1:144022400..144454797 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely benign
GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1 copy number loss See cases [RCV000135938] Chr1:145646117..146019823 [GRCh38]
Chr1:145415190..145788922 [GRCh37]
Chr1:144126547..144500279 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1 copy number loss See cases [RCV000137671] Chr1:145601946..146019823 [GRCh38]
Chr1:145415190..146053471 [GRCh37]
Chr1:144126547..144764828 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1 copy number loss See cases [RCV000140037] Chr1:144955198..145831720 [GRCh37]
Chr1:143666555..144543077 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 copy number loss See cases [RCV000139546] Chr1:145601946..146046631 [GRCh38]
Chr1:145388369..145899418 [GRCh37]
Chr1:144099726..144610775 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1 copy number loss See cases [RCV000141815] Chr1:145601946..146052881 [GRCh38]
Chr1:145382123..145888926 [GRCh37]
Chr1:144093480..144600283 [NCBI36]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:144887739-145829474)x1 copy number loss See cases [RCV000141909] Chr1:144887739..145829474 [GRCh37]
Chr1:143599096..144540831 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1 copy number loss See cases [RCV000142207] Chr1:145642988..146047980 [GRCh38]
Chr1:145387023..145792052 [GRCh37]
Chr1:144098380..144503409 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1 copy number loss See cases [RCV000143222] Chr1:145601946..146065803 [GRCh38]
Chr1:145369199..145888926 [GRCh37]
Chr1:144080556..144600283 [NCBI36]
Chr1:1q21.1		 likely pathogenic
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 copy number gain See cases [RCV000148088] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 copy number loss See cases [RCV000148089] Chr1:145635445..146009630 [GRCh38]
Chr1:145425395..145799602 [GRCh37]
Chr1:144136752..144510959 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1 copy number loss See cases [RCV000143601] Chr1:145605589..146057729 [GRCh38]
Chr1:145377276..145829474 [GRCh37]
Chr1:144088633..144540831 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 copy number loss See cases [RCV000148151] Chr1:145705541..146009831 [GRCh38]
Chr1:145425195..145729525 [GRCh37]
Chr1:144136552..144440882 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 copy number gain See cases [RCV000148171] Chr1:145601946..146009630 [GRCh38]
Chr1:145425395..145987215 [GRCh37]
Chr1:144136752..144698572 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1 copy number loss See cases [RCV000052251] Chr1:145601946..146944906 [GRCh38]
Chr1:145787561..147800872 [GRCh37]
Chr1:144498918..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053188] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147718449 [GRCh37]
Chr1:144475725..146185073 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 copy number gain See cases [RCV000053189] Chr1:145601946..146944906 [GRCh38]
Chr1:145764368..147800872 [GRCh37]
Chr1:144475725..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 copy number loss See cases [RCV000134757] Chr1:145138148..146401981 [GRCh38]
Chr1:149155041..149699396 [GRCh37]
Chr1:147421665..147966020 [NCBI36]
Chr1:1q21.1		 benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1(chr1:145020771-145640129)x3 copy number gain Premature ovarian failure [RCV000225333] Chr1:145020771..145640129 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145368848-145735385)x3 copy number gain See cases [RCV000239850] Chr1:145368848..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain See cases [RCV000239925] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x3 copy number gain See cases [RCV000239876] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144674799-145735385)x3 copy number gain See cases [RCV000240057] Chr1:144674799..145735385 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x1 copy number loss See cases [RCV000240079] Chr1:145387945..145735385 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144709677-145735385)x3 copy number gain See cases [RCV000240371] Chr1:144709677..145735385 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145792051) copy number loss Chromosome 1q21.1 deletion syndrome [RCV003319572] Chr1:145382123..145792051 [GRCh37]
Chr1:1q21.1		 pathogenic|likely pathogenic
GRCh37/hg19 1q21.1(chr1:145387023-145764679)x3 copy number gain See cases [RCV002292701] Chr1:145387023..145764679 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145387023-145803834)x1 copy number loss See cases [RCV000449470] Chr1:145387023..145803834 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145224606-145735326)x3 copy number gain See cases [RCV000446960] Chr1:145224606..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145895747)x3 copy number gain See cases [RCV000446996] Chr1:145382123..145895747 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-145809279)x3 copy number gain See cases [RCV000446123] Chr1:145288338..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145112506-145735326)x3 copy number gain See cases [RCV000446649] Chr1:145112506..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145283118-145735326)x3 copy number gain See cases [RCV000446572] Chr1:145283118..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145809279)x3 copy number gain See cases [RCV000445760] Chr1:145372549..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x1 copy number loss See cases [RCV000445806] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145382123-145770627)x3 copy number gain See cases [RCV000445719] Chr1:145382123..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145387023-145792051)x1 copy number loss See cases [RCV000447711] Chr1:145387023..145792051 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145388004-146535353)x1 copy number loss See cases [RCV000448068] Chr1:145388004..146535353 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145387945-145735326)x3 copy number gain See cases [RCV000448218] Chr1:145387945..145735326 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1(chr1:144959474-146030329)x3 copy number gain See cases [RCV000510647] Chr1:144959474..146030329 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398177-145764679)x1 copy number loss See cases [RCV000510557] Chr1:145398177..145764679 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145369199-145803834)x1 copy number loss See cases [RCV000510176] Chr1:145369199..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145809279)x3 copy number gain See cases [RCV000511462] Chr1:144823069..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance
GRCh37/hg19 1q21.1(chr1:144823069-145770627)x3 copy number gain See cases [RCV000511766] Chr1:144823069..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1(chr1:145368365-145932455)x3 copy number gain See cases [RCV000511073] Chr1:145368365..145932455 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
NM_144698.5(ANKRD35):c.2262C>A (p.Asn754Lys) single nucleotide variant Inborn genetic diseases [RCV003299718] Chr1:145872507 [GRCh38]
Chr1:145562574 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2842C>T (p.Arg948Trp) single nucleotide variant Inborn genetic diseases [RCV003281351] Chr1:145868346 [GRCh38]
Chr1:145566740 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.155C>T (p.Ser52Leu) single nucleotide variant Inborn genetic diseases [RCV003258645] Chr1:145879273 [GRCh38]
Chr1:145555807 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2009G>A (p.Arg670Gln) single nucleotide variant Inborn genetic diseases [RCV003304214] Chr1:145872760 [GRCh38]
Chr1:145562321 [GRCh37]
Chr1:1q21.1		 likely benign
NM_144698.5(ANKRD35):c.427G>A (p.Glu143Lys) single nucleotide variant Inborn genetic diseases [RCV003247877] Chr1:145876595 [GRCh38]
Chr1:145558486 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145156448-145829474)x3 copy number gain See cases [RCV000512285] Chr1:145156448..145829474 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144823069-145888926)x1 copy number loss not provided [RCV000684623] Chr1:144823069..145888926 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145376224-145770626)x3 copy number gain not provided [RCV000684629] Chr1:145376224..145770626 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145387023-145928000)x1 copy number loss not provided [RCV000684630] Chr1:145387023..145928000 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398177-145809279)x1 copy number loss not provided [RCV000684631] Chr1:145398177..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145803834)x1 copy number loss not provided [RCV000684627] Chr1:145368364..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1 copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000709929] Chr1:145415156..145799615 [GRCh37]
Chr1:1q21.1		 not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754129] Chr1:145601945..146041785 [GRCh38]
Chr1:1q21.1		 likely pathogenic
NC_000001.11:g.(?_145601945)_(146048346_?)del deletion Schizophrenia [RCV000754130] Chr1:145601945..146048346 [GRCh38]
Chr1:1q21.1		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754131] Chr1:145601945..146049618 [GRCh38]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:144938320-145747925)x3 copy number gain not provided [RCV000749158] Chr1:144938320..145747925 [GRCh37]
Chr1:1q21.1		 likely benign
GRCh37/hg19 1q21.1(chr1:145101177-146508774)x3 copy number gain not provided [RCV000749159] Chr1:145101177..146508774 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145319773-145762959)x1 copy number loss not provided [RCV000749160] Chr1:145319773..145762959 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145762959)x3 copy number gain not provided [RCV000749161] Chr1:145394955..145762959 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145895948)x3 copy number gain not provided [RCV000749162] Chr1:145394955..145895948 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145394955-145940594)x3 copy number gain not provided [RCV000749163] Chr1:145394955..145940594 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145395604-145704146) copy number loss Radial aplasia-thrombocytopenia syndrome [RCV000767549] Chr1:145395604..145704146 [GRCh37]
Chr1:1q21.1		 likely pathogenic
NC_000001.10:g.(?_145498103)_(145567095_?)dup duplication not provided [RCV001032118] Chr1:145498103..145567095 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_144698.5(ANKRD35):c.2415G>T (p.Gln805His) single nucleotide variant Inborn genetic diseases [RCV003247837] Chr1:145872354 [GRCh38]
Chr1:145562727 [GRCh37]
Chr1:1q21.1		 uncertain significance
Single allele duplication Growth abnormality [RCV000787430] Chr1:145461209..146467333 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145372549-145770627)x3 copy number gain not provided [RCV000849868] Chr1:145372549..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145368364-145809279)x3 copy number gain not provided [RCV000849487] Chr1:145368364..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145369199-145770627)x3 copy number gain not provided [RCV000849905] Chr1:145369199..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145747910)x3 copy number gain not provided [RCV000847131] Chr1:145382123..145747910 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145769109)x3 copy number gain not provided [RCV000847355] Chr1:145311524..145769109 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1 copy number loss not provided [RCV000848594] Chr1:144884265..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3 copy number gain not provided [RCV000846345] Chr1:144861071..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145398236-145792148)x3 copy number gain not provided [RCV000848278] Chr1:145398236..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145764679)x3 copy number gain not provided [RCV000848643] Chr1:145382123..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145899214)x3 copy number gain not provided [RCV000846811] Chr1:145382123..145899214 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145768023)x3 copy number gain not provided [RCV000846834] Chr1:145375589..145768023 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3 copy number gain not provided [RCV000847763] Chr1:145225122..145770627 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000846049] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000846856] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1 copy number loss not provided [RCV000849695] Chr1:145311524..145809279 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3 copy number gain not provided [RCV000848873] Chr1:144950620..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145480145-145810881)x3 copy number gain not provided [RCV000849856] Chr1:145480145..145810881 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382123-145792148)x3 copy number gain not provided [RCV000848481] Chr1:145382123..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145792148)x3 copy number gain not provided [RCV000850022] Chr1:145376197..145792148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145376197-145764679)x1 copy number loss not provided [RCV000848579] Chr1:145376197..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145375589-145600717)x3 copy number gain not provided [RCV000847551] Chr1:145375589..145600717 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.482C>T (p.Ser161Leu) single nucleotide variant Inborn genetic diseases [RCV003247535] Chr1:145876218 [GRCh38]
Chr1:145558863 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.634G>A (p.Ala212Thr) single nucleotide variant Inborn genetic diseases [RCV003290012] Chr1:145874933 [GRCh38]
Chr1:145560148 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3 copy number gain not provided [RCV001249453] Chr1:145291030..145735385 [GRCh37]
Chr1:1q21.1		 not provided
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.10:g.(?_145487304)_(145557112_?)dup duplication not provided [RCV001031413] Chr1:145487304..145557112 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145498103)_(145567756_?)dup duplication not provided [RCV001031867] Chr1:145498103..145567756 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145487304)_(145567095_?)dup duplication not provided [RCV001032330] Chr1:145487304..145567095 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1 copy number loss not provided [RCV001260117] Chr1:145288338..146011861 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1 copy number loss See cases [RCV001263044] Chr1:145347631..145833118 [GRCh37]
Chr1:1q21.1		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_145414782)_(145610584_?)dup duplication Radial aplasia-thrombocytopenia syndrome [RCV003120587]|not provided [RCV001374077] Chr1:145414782..145610584 [GRCh37]
Chr1:1q21.1		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_145507647)_(145555822_?)del deletion not provided [RCV001383557] Chr1:145507647..145555822 [GRCh37]
Chr1:1q21.1		 pathogenic
NC_000001.11:g.145601946_148597425del deletion Radial aplasia-thrombocytopenia syndrome [RCV000853559] Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3 copy number gain Failure to thrive [RCV001801229] Chr1:145324298..146018577 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382601-145616000) copy number loss Cerebral palsy [RCV001796582] Chr1:145382601..145616000 [GRCh37]
Chr1:1q21.1		 risk factor
GRCh37/hg19 1q21.1(chr1:145038814-145747463) copy number loss Radial aplasia-thrombocytopenia syndrome [RCV001807692] Chr1:145038814..145747463 [GRCh37]
Chr1:1q21.1		 pathogenic
NC_000001.10:g.145382933_145831892del deletion not provided [RCV001806693] Chr1:145382933..145831892 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145369199-145886340)x1 copy number loss not provided [RCV001836589] Chr1:145369199..145886340 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145372549-145829474)x1 copy number loss not provided [RCV001836601] Chr1:145372549..145829474 [GRCh37]
Chr1:1q21.1		 uncertain significance
NC_000001.10:g.(?_145414782)_(145610584_?)del deletion Radial aplasia-thrombocytopenia syndrome [RCV001975148]|not provided [RCV003107930] Chr1:145414782..145610584 [GRCh37]
Chr1:1q21.1		 pathogenic|no classifications from unflagged records
GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 copy number loss See cases [RCV002287572] Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1 copy number loss Dysmorphic features [RCV002281680] Chr1:144893419..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 copy number loss not provided [RCV002474588] Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_144698.5(ANKRD35):c.2861T>C (p.Leu954Pro) single nucleotide variant Inborn genetic diseases [RCV003265107] Chr1:145868327 [GRCh38]
Chr1:145566759 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1 copy number loss not provided [RCV002472564] Chr1:145083851..145986573 [GRCh37]
Chr1:1q21.1		 pathogenic
Single allele deletion See cases [RCV003154628] Chr1:145414780..145826931 [GRCh37]
Chr1:1q21.1		 pathogenic
NM_144698.5(ANKRD35):c.2843G>A (p.Arg948Gln) single nucleotide variant Inborn genetic diseases [RCV002682838] Chr1:145868345 [GRCh38]
Chr1:145566741 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1 copy number loss not provided [RCV002475646] Chr1:144823070..146011861 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 copy number loss not provided [RCV002511625] Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_144698.5(ANKRD35):c.2216G>C (p.Arg739Pro) single nucleotide variant Inborn genetic diseases [RCV002778575] Chr1:145872553 [GRCh38]
Chr1:145562528 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2942G>A (p.Arg981Gln) single nucleotide variant Inborn genetic diseases [RCV002707602] Chr1:145867992 [GRCh38]
Chr1:145567094 [GRCh37]
Chr1:1q21.1		 likely benign
NM_144698.5(ANKRD35):c.1633C>A (p.Leu545Met) single nucleotide variant Inborn genetic diseases [RCV002692283] Chr1:145873136 [GRCh38]
Chr1:145561945 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.260G>A (p.Gly87Glu) single nucleotide variant Inborn genetic diseases [RCV002738262] Chr1:145878032 [GRCh38]
Chr1:145557048 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2836G>C (p.Ala946Pro) single nucleotide variant Inborn genetic diseases [RCV002845833] Chr1:145868352 [GRCh38]
Chr1:145566734 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1087C>T (p.Arg363Trp) single nucleotide variant Inborn genetic diseases [RCV002798550] Chr1:145873682 [GRCh38]
Chr1:145561399 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.98T>C (p.Val33Ala) single nucleotide variant Inborn genetic diseases [RCV002925300] Chr1:145879330 [GRCh38]
Chr1:145555750 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1363G>C (p.Asp455His) single nucleotide variant Inborn genetic diseases [RCV002718372] Chr1:145873406 [GRCh38]
Chr1:145561675 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1070A>G (p.Lys357Arg) single nucleotide variant Inborn genetic diseases [RCV002940744] Chr1:145873699 [GRCh38]
Chr1:145561382 [GRCh37]
Chr1:1q21.1		 likely benign
NM_144698.5(ANKRD35):c.2078T>G (p.Leu693Arg) single nucleotide variant Inborn genetic diseases [RCV002831700] Chr1:145872691 [GRCh38]
Chr1:145562390 [GRCh37]
Chr1:1q21.1		 likely benign
NM_144698.5(ANKRD35):c.932G>A (p.Arg311Gln) single nucleotide variant Inborn genetic diseases [RCV002832649] Chr1:145873837 [GRCh38]
Chr1:145561244 [GRCh37]
Chr1:1q21.1		 likely benign
NM_144698.5(ANKRD35):c.2968A>G (p.Asn990Asp) single nucleotide variant Inborn genetic diseases [RCV002854839] Chr1:145867368 [GRCh38]
Chr1:145567718 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1972C>G (p.Pro658Ala) single nucleotide variant Inborn genetic diseases [RCV002898261] Chr1:145872797 [GRCh38]
Chr1:145562284 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.998T>C (p.Leu333Pro) single nucleotide variant Inborn genetic diseases [RCV002652759] Chr1:145873771 [GRCh38]
Chr1:145561310 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.169C>T (p.Pro57Ser) single nucleotide variant Inborn genetic diseases [RCV002724886] Chr1:145879259 [GRCh38]
Chr1:145555821 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1(chr1:145635432-146019857) copy number loss See cases [RCV003223552] Chr1:145635432..146019857 [GRCh38]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1470G>T (p.Gln490His) single nucleotide variant Inborn genetic diseases [RCV003191096] Chr1:145873299 [GRCh38]
Chr1:145561782 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.361C>T (p.Arg121Cys) single nucleotide variant Inborn genetic diseases [RCV003184380] Chr1:145876837 [GRCh38]
Chr1:145558244 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.313G>T (p.Val105Phe) single nucleotide variant Inborn genetic diseases [RCV003218439] Chr1:145877979 [GRCh38]
Chr1:145557101 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1445C>A (p.Pro482Gln) single nucleotide variant Inborn genetic diseases [RCV003199602] Chr1:145873324 [GRCh38]
Chr1:145561757 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.928G>T (p.Val310Phe) single nucleotide variant Inborn genetic diseases [RCV003197381] Chr1:145873841 [GRCh38]
Chr1:145561240 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2765C>T (p.Ala922Val) single nucleotide variant Inborn genetic diseases [RCV003216207] Chr1:145872004 [GRCh38]
Chr1:145563077 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1229G>C (p.Gly410Ala) single nucleotide variant Inborn genetic diseases [RCV003198090] Chr1:145873540 [GRCh38]
Chr1:145561541 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1298C>A (p.Ser433Tyr) single nucleotide variant Inborn genetic diseases [RCV003210541] Chr1:145873471 [GRCh38]
Chr1:145561610 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3 copy number gain Chromosome 1q21.1 deletion syndrome [RCV003329510] Chr1:145365275..145826979 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1 copy number loss Radial aplasia-thrombocytopenia syndrome [RCV003327647] Chr1:145822587..146064587 [GRCh38]
Chr1:1q21.1		 pathogenic
NM_144698.5(ANKRD35):c.765C>A (p.His255Gln) single nucleotide variant Inborn genetic diseases [RCV003357745] Chr1:145874173 [GRCh38]
Chr1:145560908 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.359A>G (p.Asn120Ser) single nucleotide variant Inborn genetic diseases [RCV003357441] Chr1:145876839 [GRCh38]
Chr1:145558242 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.442G>A (p.Val148Met) single nucleotide variant Inborn genetic diseases [RCV003381456] Chr1:145876580 [GRCh38]
Chr1:145558501 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.2794G>C (p.Glu932Gln) single nucleotide variant Inborn genetic diseases [RCV003379817] Chr1:145868394 [GRCh38]
Chr1:145566692 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1660G>C (p.Gly554Arg) single nucleotide variant Inborn genetic diseases [RCV003360413] Chr1:145873109 [GRCh38]
Chr1:145561972 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.608A>G (p.Glu203Gly) single nucleotide variant Inborn genetic diseases [RCV003350216] Chr1:145874959 [GRCh38]
Chr1:145560122 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3 copy number gain not provided [RCV003456699] Chr1:144828541..145826929 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1529G>C (p.Arg510Pro) single nucleotide variant Inborn genetic diseases [RCV003346845] Chr1:145873240 [GRCh38]
Chr1:145561841 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.247A>G (p.Lys83Glu) single nucleotide variant Inborn genetic diseases [RCV003370071] Chr1:145878403 [GRCh38]
Chr1:145556677 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1240T>A (p.Tyr414Asn) single nucleotide variant Inborn genetic diseases [RCV003351469] Chr1:145873529 [GRCh38]
Chr1:145561552 [GRCh37]
Chr1:1q21.1		 uncertain significance
NM_144698.5(ANKRD35):c.1913G>C (p.Arg638Pro) single nucleotide variant Inborn genetic diseases [RCV003371805] Chr1:145872856 [GRCh38]
Chr1:145562225 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1 copy number loss not provided [RCV003483327] Chr1:145368365..145829474 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3 copy number gain not provided [RCV003484036] Chr1:145287320..145764679 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1 copy number loss not provided [RCV003483338] Chr1:145382124..145803834 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 copy number loss not provided [RCV003483316] Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1(chr1:145452902-145557355)x3 copy number gain not specified [RCV003987117] Chr1:145452902..145557355 [GRCh37]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211) copy number loss Autism spectrum disorder [RCV003885439] Chr1:145421717..148193211 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
Single allele deletion not provided [RCV003985128] Chr1:145382448..145831727 [GRCh37]
Chr1:1q21.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:464
Count of miRNA genes:364
Interacting mature miRNAs:403
Transcripts:ENST00000355594, ENST00000544626
Prediction methods: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
AL009334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371145,556,981 - 145,557,102UniSTSGRCh37
Build 361144,268,338 - 144,268,459RGDNCBI36
Celera1119,760,352 - 119,760,473RGD
Cytogenetic Map1q21.1UniSTS
HuRef1119,520,703 - 119,520,824UniSTS


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 727 704 14 131 25 2 1695 468 944 21 547 46 129 107 995
Low 1565 1789 1507 377 857 344 2576 1611 2720 178 791 1371 40 1097 1793 1 1
Below cutoff 76 487 179 97 665 100 31 88 32 173 67 100 3 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000355594   ⟹   ENSP00000347802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,866,564 - 145,885,866 (-)Ensembl
RefSeq Acc Id: ENST00000544626   ⟹   ENSP00000442671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1145,866,560 - 145,885,866 (-)Ensembl
RefSeq Acc Id: NM_001280799   ⟹   NP_001267728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,866,564 - 145,885,866 (-)NCBI
GRCh371145,549,209 - 145,568,526 (+)NCBI
HuRef1119,512,931 - 119,532,243 (+)NCBI
CHM1_11147,234,686 - 147,253,992 (-)NCBI
T2T-CHM13v2.01144,983,377 - 145,002,686 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144698   ⟹   NP_653299
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381145,866,564 - 145,885,866 (-)NCBI
GRCh371145,549,209 - 145,568,526 (+)RGD
Build 361144,260,566 - 144,279,883 (+)NCBI Archive
Celera1119,752,581 - 119,771,890 (+)RGD
HuRef1119,512,931 - 119,532,243 (+)ENTREZGENE
CHM1_11147,234,686 - 147,253,992 (-)NCBI
T2T-CHM13v2.01144,983,377 - 145,002,686 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_653299   ⟸   NM_144698
- Peptide Label: isoform 1
- UniProtKB: Q96LS3 (UniProtKB/Swiss-Prot),   Q3MJ10 (UniProtKB/Swiss-Prot),   B4DL62 (UniProtKB/Swiss-Prot),   A6NEU0 (UniProtKB/Swiss-Prot),   Q8N283 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001267728   ⟸   NM_001280799
- Peptide Label: isoform 2
- UniProtKB: B4DFX6 (UniProtKB/TrEMBL),   F6XZD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000442671   ⟸   ENST00000544626
RefSeq Acc Id: ENSP00000347802   ⟸   ENST00000355594

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N283-F1-model_v2 AlphaFold Q8N283 1-1001 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26323 AgrOrtholog
COSMIC ANKRD35 COSMIC
Ensembl Genes ENSG00000198483 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355594 ENTREZGENE
  ENST00000355594.9 UniProtKB/Swiss-Prot
  ENST00000544626 ENTREZGENE
  ENST00000544626.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198483 GTEx
HGNC ID HGNC:26323 ENTREZGENE
Human Proteome Map ANKRD35 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:148741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 148741 ENTREZGENE
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 35 UniProtKB/TrEMBL
  MYOTROPHIN UniProtKB/Swiss-Prot
  MYOTROPHIN-RELATED UniProtKB/Swiss-Prot
Pfam Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134896362 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NEU0 ENTREZGENE
  ANR35_HUMAN UniProtKB/Swiss-Prot
  B4DFX6 ENTREZGENE, UniProtKB/TrEMBL
  B4DL62 ENTREZGENE
  F6XZD3 ENTREZGENE, UniProtKB/TrEMBL
  Q3MJ10 ENTREZGENE
  Q8N283 ENTREZGENE
  Q96LS3 ENTREZGENE
UniProt Secondary A6NEU0 UniProtKB/Swiss-Prot
  B4DL62 UniProtKB/Swiss-Prot
  Q3MJ10 UniProtKB/Swiss-Prot
  Q96LS3 UniProtKB/Swiss-Prot