AK7 (adenylate kinase 7) - Rat Genome Database

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Gene: AK7 (adenylate kinase 7) Homo sapiens
Analyze
Symbol: AK7
Name: adenylate kinase 7
RGD ID: 1320025
HGNC Page HGNC:20091
Description: Enables adenylate kinase activity; cytidylate kinase activity; and nucleoside diphosphate kinase activity. Predicted to be involved in cell projection organization and nucleoside monophosphate phosphorylation. Predicted to act upstream of or within several processes, including axoneme assembly; epithelial cilium movement involved in extracellular fluid movement; and inflammatory response to antigenic stimulus. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Implicated in spermatogenic failure 27.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AK 7; ATP-AMP transphosphorylase 7; CFAP75; FAP75; FLJ32864; putative adenylate kinase 7; SPGF27
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
GRCh381496,392,128 - 96,489,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1496,392,128 - 96,489,427 (+)EnsemblGRCh38hg38GRCh38
GRCh371496,858,465 - 96,955,764 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,928,201 - 96,024,865 (+)NCBINCBI36Build 36hg18NCBI36
Build 341495,928,200 - 96,024,866NCBI
Celera1476,914,175 - 77,010,845 (+)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1477,043,535 - 77,140,413 (+)NCBIHuRef
CHM1_11496,797,289 - 96,894,524 (+)NCBICHM1_1
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IEA,TAS)
motile cilium  (IEA)

Molecular Pathway 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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10215863   PMID:12477932   PMID:12508121   PMID:14702039   PMID:15489334   PMID:20379614   PMID:20537283   PMID:21080915   PMID:21873635   PMID:22801010   PMID:23416111  
PMID:26496610   PMID:29365104   PMID:29845934   PMID:32251557   PMID:32665550   PMID:33961781  


Genomics

Comparative Map Data
AK7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381496,392,128 - 96,489,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1496,392,128 - 96,489,427 (+)EnsemblGRCh38hg38GRCh38
GRCh371496,858,465 - 96,955,764 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361495,928,201 - 96,024,865 (+)NCBINCBI36Build 36hg18NCBI36
Build 341495,928,200 - 96,024,866NCBI
Celera1476,914,175 - 77,010,845 (+)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1477,043,535 - 77,140,413 (+)NCBIHuRef
CHM1_11496,797,289 - 96,894,524 (+)NCBICHM1_1
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBIT2T-CHM13v2.0
Ak7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912105,670,115 - 105,748,706 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12105,672,235 - 105,748,706 (+)EnsemblGRCm39 Ensembl
GRCm3812105,703,858 - 105,782,447 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12105,705,976 - 105,782,447 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712106,944,192 - 107,020,657 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612106,107,032 - 106,183,497 (+)NCBIMGSCv36mm8
Celera12106,940,507 - 107,017,130 (+)NCBICelera
Cytogenetic Map12ENCBI
cM Map1255.95NCBI
Ak7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86130,376,499 - 130,444,674 (+)NCBIGRCr8
mRatBN7.26124,611,789 - 124,679,978 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6124,611,902 - 124,679,961 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6124,734,223 - 124,803,198 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06125,029,490 - 125,098,470 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06124,389,700 - 124,457,780 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06129,538,648 - 129,606,960 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6129,538,982 - 129,606,932 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06138,732,026 - 138,805,327 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46129,861,499 - 129,933,903 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16129,865,370 - 129,939,804 (+)NCBI
Celera6122,178,930 - 122,246,130 (+)NCBICelera
Cytogenetic Map6q32NCBI
Ak7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543818,178,822 - 18,233,051 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543818,178,822 - 18,233,051 (+)NCBIChiLan1.0ChiLan1.0
AK7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21597,552,083 - 97,651,326 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11496,768,587 - 96,867,830 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01477,021,880 - 77,119,037 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11496,344,219 - 96,440,415 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1496,344,240 - 96,440,384 (+)Ensemblpanpan1.1panPan2
AK7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1865,136,750 - 65,213,589 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl865,136,705 - 65,213,555 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha864,653,322 - 64,730,381 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0865,409,508 - 65,486,864 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl865,409,456 - 65,486,388 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1865,082,340 - 65,159,573 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0865,143,563 - 65,220,637 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0865,467,259 - 65,544,215 (+)NCBIUU_Cfam_GSD_1.0
Ak7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086409,339,422 - 9,402,271 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936604680,329 - 742,284 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936604680,237 - 742,580 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AK7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7117,609,840 - 117,667,455 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17117,609,791 - 117,667,247 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27124,867,883 - 124,925,586 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AK7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12474,275,451 - 74,376,032 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2474,275,637 - 74,377,562 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605361,426,946 - 61,526,079 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ak7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247346,942,374 - 7,001,212 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247346,942,786 - 7,000,453 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AK7
309 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3 copy number gain See cases [RCV000052089] Chr14:95787358..96453757 [GRCh38]
Chr14:96253695..96920094 [GRCh37]
Chr14:95323448..95989847 [NCBI36]
Chr14:14q32.13-32.2		 uncertain significance
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_152327.3(AK7):c.602G>A (p.Gly201Glu) single nucleotide variant Malignant melanoma [RCV000070681] Chr14:96420925 [GRCh38]
Chr14:96887262 [GRCh37]
Chr14:95957015 [NCBI36]
Chr14:14q32.2		 not provided
NM_152327.3(AK7):c.2145C>T (p.Leu715=) single nucleotide variant Malignant melanoma [RCV000070682] Chr14:96488316 [GRCh38]
Chr14:96954653 [GRCh37]
Chr14:96024406 [NCBI36]
Chr14:14q32.2		 not provided
NM_152327.5(AK7):c.1171dup (p.Tyr391fs) duplication Primary ciliary dyskinesia [RCV000054831] Chr14:96456418..96456419 [GRCh38]
Chr14:96922755..96922756 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_152327.5(AK7):c.323G>A (p.Arg108His) single nucleotide variant Inborn genetic diseases [RCV003244639]|not provided [RCV003549035] Chr14:96404785 [GRCh38]
Chr14:96871122 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_152327.5(AK7):c.1153A>G (p.Lys385Glu) single nucleotide variant not provided [RCV000948416]|not specified [RCV000454915] Chr14:96456401 [GRCh38]
Chr14:96922738 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV002056681]|not specified [RCV000455552] Chr14:96404767 [GRCh38]
Chr14:96871104 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1167C>G (p.Asn389Lys) single nucleotide variant not provided [RCV002056683]|not specified [RCV000455601] Chr14:96456415 [GRCh38]
Chr14:96922752 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.948+12C>T single nucleotide variant not provided [RCV002056682]|not specified [RCV000456011] Chr14:96449891 [GRCh38]
Chr14:96916228 [GRCh37]
Chr14:14q32.2		 benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_152327.5(AK7):c.2018T>G (p.Leu673Arg) single nucleotide variant Spermatogenic failure 27 [RCV000627039] Chr14:96486941 [GRCh38]
Chr14:96953278 [GRCh37]
Chr14:14q32.2		 pathogenic
NM_152327.5(AK7):c.1442A>G (p.Asp481Gly) single nucleotide variant Inborn genetic diseases [RCV003273936] Chr14:96471562 [GRCh38]
Chr14:96937899 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3 copy number gain not provided [RCV000683609] Chr14:96641506..97154180 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
NM_152327.5(AK7):c.2018T>C (p.Leu673Pro) single nucleotide variant Spermatogenic failure 27 [RCV000755755]|not provided [RCV002067184] Chr14:96486941 [GRCh38]
Chr14:96953278 [GRCh37]
Chr14:14q32.2		 likely pathogenic|likely benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_152327.5(AK7):c.498+1G>A single nucleotide variant not provided [RCV003852718] Chr14:96408942 [GRCh38]
Chr14:96875279 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.584A>T (p.Lys195Ile) single nucleotide variant Inborn genetic diseases [RCV003295471] Chr14:96420907 [GRCh38]
Chr14:96887244 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1565G>A (p.Cys522Tyr) single nucleotide variant not provided [RCV001969811] Chr14:96478474 [GRCh38]
Chr14:96944811 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1198G>A (p.Asp400Asn) single nucleotide variant not provided [RCV001929386] Chr14:96456446 [GRCh38]
Chr14:96922783 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1727A>G (p.Glu576Gly) single nucleotide variant not provided [RCV001929170] Chr14:96478636 [GRCh38]
Chr14:96944973 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.690+13A>G single nucleotide variant not provided [RCV001950092] Chr14:96437928 [GRCh38]
Chr14:96904265 [GRCh37]
Chr14:14q32.2		 likely benign|uncertain significance
NM_152327.5(AK7):c.1385G>C (p.Arg462Thr) single nucleotide variant not provided [RCV002006970] Chr14:96471505 [GRCh38]
Chr14:96937842 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.705C>T (p.Gly235=) single nucleotide variant not provided [RCV002004130] Chr14:96442744 [GRCh38]
Chr14:96909081 [GRCh37]
Chr14:14q32.2		 likely benign|uncertain significance
NM_152327.5(AK7):c.818A>G (p.His273Arg) single nucleotide variant not provided [RCV002021659] Chr14:96446555 [GRCh38]
Chr14:96912892 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.805G>A (p.Val269Met) single nucleotide variant not provided [RCV001928473] Chr14:96446542 [GRCh38]
Chr14:96912879 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1 copy number loss not provided [RCV001827727] Chr14:95871795..102457523 [GRCh37]
Chr14:14q32.13-32.31		 pathogenic
NM_152327.5(AK7):c.44T>C (p.Ile15Thr) single nucleotide variant not provided [RCV001872841] Chr14:96392198 [GRCh38]
Chr14:96858535 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1123C>T (p.Pro375Ser) single nucleotide variant not provided [RCV001889219] Chr14:96456371 [GRCh38]
Chr14:96922708 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.871-2A>G single nucleotide variant not provided [RCV002041344] Chr14:96449800 [GRCh38]
Chr14:96916137 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2104G>A (p.Val702Ile) single nucleotide variant not provided [RCV001893997] Chr14:96487027 [GRCh38]
Chr14:96953364 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1997A>G (p.Lys666Arg) single nucleotide variant not provided [RCV001894423] Chr14:96486920 [GRCh38]
Chr14:96953257 [GRCh37]
Chr14:14q32.2		 uncertain significance
NC_000014.8:g.(?_96904152)_(96904272_?)dup duplication not provided [RCV001992589] Chr14:96904152..96904272 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.286A>G (p.Thr96Ala) single nucleotide variant not provided [RCV001887857] Chr14:96398255 [GRCh38]
Chr14:96864592 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2024C>T (p.Ala675Val) single nucleotide variant Inborn genetic diseases [RCV003170348]|not provided [RCV002000330] Chr14:96486947 [GRCh38]
Chr14:96953284 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.153GGAAGA[1] (p.Glu53_Glu56del) microsatellite not provided [RCV001974375] Chr14:96398119..96398130 [GRCh38]
Chr14:96864456..96864467 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1460A>G (p.Tyr487Cys) single nucleotide variant not provided [RCV002014811] Chr14:96471580 [GRCh38]
Chr14:96937917 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2146_2148del (p.Phe716del) deletion not provided [RCV001934491] Chr14:96488315..96488317 [GRCh38]
Chr14:96954652..96954654 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1696G>A (p.Asp566Asn) single nucleotide variant not provided [RCV002026677] Chr14:96478605 [GRCh38]
Chr14:96944942 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.266G>A (p.Arg89Gln) single nucleotide variant not provided [RCV001923944] Chr14:96398235 [GRCh38]
Chr14:96864572 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1975-17_1975-14delinsTATTCTATTTTAGAATATTCTATTCTATTTTATTT indel not provided [RCV001974258] Chr14:96486881..96486884 [GRCh38]
Chr14:96953218..96953221 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1165A>G (p.Asn389Asp) single nucleotide variant not provided [RCV001902072] Chr14:96456413 [GRCh38]
Chr14:96922750 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.455T>C (p.Leu152Pro) single nucleotide variant AK7-related condition [RCV003968662]|not provided [RCV001950823] Chr14:96408898 [GRCh38]
Chr14:96875235 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.265C>T (p.Arg89Trp) single nucleotide variant not provided [RCV002017558] Chr14:96398234 [GRCh38]
Chr14:96864571 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.310G>T (p.Asp104Tyr) single nucleotide variant Inborn genetic diseases [RCV002556352]|not provided [RCV001925880] Chr14:96404772 [GRCh38]
Chr14:96871109 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1657T>A (p.Phe553Ile) single nucleotide variant Inborn genetic diseases [RCV002657723]|not provided [RCV002047897] Chr14:96478566 [GRCh38]
Chr14:96944903 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.223A>C (p.Thr75Pro) single nucleotide variant not provided [RCV001933487] Chr14:96398192 [GRCh38]
Chr14:96864529 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1743G>A (p.Pro581=) single nucleotide variant not provided [RCV002107462] Chr14:96478652 [GRCh38]
Chr14:96944989 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV002186654] Chr14:96398257 [GRCh38]
Chr14:96864594 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1632G>A (p.Ala544=) single nucleotide variant not provided [RCV002129686] Chr14:96478541 [GRCh38]
Chr14:96944878 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1487-20G>A single nucleotide variant not provided [RCV002126013] Chr14:96472667 [GRCh38]
Chr14:96939004 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1555+16T>C single nucleotide variant not provided [RCV002129682] Chr14:96472771 [GRCh38]
Chr14:96939108 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.498+17C>T single nucleotide variant not provided [RCV002086524] Chr14:96408958 [GRCh38]
Chr14:96875295 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1521C>A (p.Gly507=) single nucleotide variant not provided [RCV002168376] Chr14:96472721 [GRCh38]
Chr14:96939058 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1561G>A (p.Val521Ile) single nucleotide variant not provided [RCV002166365] Chr14:96478470 [GRCh38]
Chr14:96944807 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.403+17C>T single nucleotide variant not provided [RCV002169268] Chr14:96404882 [GRCh38]
Chr14:96871219 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1358-13del deletion not provided [RCV002210576] Chr14:96471465 [GRCh38]
Chr14:96937802 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.609+13T>G single nucleotide variant not provided [RCV002090792] Chr14:96420945 [GRCh38]
Chr14:96887282 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.507T>C (p.Ser169=) single nucleotide variant not provided [RCV002151299] Chr14:96420830 [GRCh38]
Chr14:96887167 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1071G>A (p.Lys357=) single nucleotide variant not provided [RCV002116024] Chr14:96451543 [GRCh38]
Chr14:96917880 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1936G>A (p.Val646Met) single nucleotide variant not provided [RCV002193801] Chr14:96483181 [GRCh38]
Chr14:96949518 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1626C>T (p.Ile542=) single nucleotide variant not provided [RCV002111871] Chr14:96478535 [GRCh38]
Chr14:96944872 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1845C>T (p.Asp615=) single nucleotide variant AK7-related condition [RCV003911252]|not provided [RCV002197324] Chr14:96483090 [GRCh38]
Chr14:96949427 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.792C>T (p.Asn264=) single nucleotide variant not provided [RCV002097405] Chr14:96446529 [GRCh38]
Chr14:96912866 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.354C>T (p.Asn118=) single nucleotide variant not provided [RCV002135252] Chr14:96404816 [GRCh38]
Chr14:96871153 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1368C>T (p.Asp456=) single nucleotide variant not provided [RCV002115762] Chr14:96471488 [GRCh38]
Chr14:96937825 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1257G>A (p.Gly419=) single nucleotide variant not provided [RCV002174895] Chr14:96458112 [GRCh38]
Chr14:96924449 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1476C>T (p.Asp492=) single nucleotide variant not provided [RCV002096100] Chr14:96471596 [GRCh38]
Chr14:96937933 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.993G>A (p.Ala331=) single nucleotide variant not provided [RCV002151818] Chr14:96451465 [GRCh38]
Chr14:96917802 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.30C>G (p.Leu10=) single nucleotide variant not provided [RCV002104721] Chr14:96392184 [GRCh38]
Chr14:96858521 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.779+20C>T single nucleotide variant not provided [RCV002126675] Chr14:96442838 [GRCh38]
Chr14:96909175 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.99C>A (p.Ile33=) single nucleotide variant not provided [RCV002113054] Chr14:96392253 [GRCh38]
Chr14:96858590 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.871-9C>T single nucleotide variant not provided [RCV002152026] Chr14:96449793 [GRCh38]
Chr14:96916130 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.660G>A (p.Ala220=) single nucleotide variant AK7-related condition [RCV003933443]|not provided [RCV002127024] Chr14:96437885 [GRCh38]
Chr14:96904222 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.294+16T>C single nucleotide variant not provided [RCV002173892] Chr14:96398279 [GRCh38]
Chr14:96864616 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.948+28_948+29dup duplication not provided [RCV002207526] Chr14:96449895..96449896 [GRCh38]
Chr14:96916232..96916233 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.819C>T (p.His273=) single nucleotide variant not provided [RCV002096417] Chr14:96446556 [GRCh38]
Chr14:96912893 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1227+13A>T single nucleotide variant not provided [RCV002121028] Chr14:96456488 [GRCh38]
Chr14:96922825 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.779+11G>A single nucleotide variant not provided [RCV002135419] Chr14:96442829 [GRCh38]
Chr14:96909166 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.498+7A>T single nucleotide variant not provided [RCV002117746] Chr14:96408948 [GRCh38]
Chr14:96875285 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.498+8G>A single nucleotide variant not provided [RCV002098492] Chr14:96408949 [GRCh38]
Chr14:96875286 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1555+16T>G single nucleotide variant not provided [RCV002136029] Chr14:96472771 [GRCh38]
Chr14:96939108 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.51C>A (p.Thr17=) single nucleotide variant not provided [RCV002160975] Chr14:96392205 [GRCh38]
Chr14:96858542 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.949-9_949-6del deletion not provided [RCV002140278] Chr14:96451409..96451412 [GRCh38]
Chr14:96917746..96917749 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.871-17C>T single nucleotide variant not provided [RCV002120958] Chr14:96449785 [GRCh38]
Chr14:96916122 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.499-8T>C single nucleotide variant not provided [RCV002198182] Chr14:96420814 [GRCh38]
Chr14:96887151 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.690+20C>T single nucleotide variant not provided [RCV002161979] Chr14:96437935 [GRCh38]
Chr14:96904272 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.897G>A (p.Gly299=) single nucleotide variant not provided [RCV002201106] Chr14:96449828 [GRCh38]
Chr14:96916165 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1078A>G (p.Lys360Glu) single nucleotide variant AK7-related condition [RCV003913651]|not provided [RCV002097829] Chr14:96451550 [GRCh38]
Chr14:96917887 [GRCh37]
Chr14:14q32.2		 benign|likely benign
NM_152327.5(AK7):c.403+20T>C single nucleotide variant not provided [RCV002135487] Chr14:96404885 [GRCh38]
Chr14:96871222 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.948+29dup duplication not provided [RCV002122824] Chr14:96449895..96449896 [GRCh38]
Chr14:96916232..96916233 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.2133+19A>T single nucleotide variant not provided [RCV002117902] Chr14:96487075 [GRCh38]
Chr14:96953412 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.948+16dup duplication not provided [RCV002136309] Chr14:96449894..96449895 [GRCh38]
Chr14:96916231..96916232 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.738A>G (p.Gly246=) single nucleotide variant not provided [RCV002217489] Chr14:96442777 [GRCh38]
Chr14:96909114 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.681A>T (p.Thr227=) single nucleotide variant AK7-related condition [RCV003933555]|not provided [RCV002120726] Chr14:96437906 [GRCh38]
Chr14:96904243 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1358-10T>A single nucleotide variant not provided [RCV002138800] Chr14:96471468 [GRCh38]
Chr14:96937805 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.659C>T (p.Ala220Val) single nucleotide variant not provided [RCV002203161] Chr14:96437884 [GRCh38]
Chr14:96904221 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1311A>G (p.Ala437=) single nucleotide variant not provided [RCV002161827] Chr14:96458166 [GRCh38]
Chr14:96924503 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1975-17C>T single nucleotide variant not provided [RCV002220968] Chr14:96486881 [GRCh38]
Chr14:96953218 [GRCh37]
Chr14:14q32.2		 likely benign
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NM_152327.5(AK7):c.1699G>A (p.Asp567Asn) single nucleotide variant not provided [RCV003113080] Chr14:96478608 [GRCh38]
Chr14:96944945 [GRCh37]
Chr14:14q32.2		 uncertain significance
NC_000014.8:g.(?_95080779)_(97347545_?)dup duplication not provided [RCV003113847] Chr14:95080779..97347545 [GRCh37]
Chr14:14q32.13-32.2		 uncertain significance
NM_152327.5(AK7):c.631G>A (p.Val211Ile) single nucleotide variant not provided [RCV003112540] Chr14:96437856 [GRCh38]
Chr14:96904193 [GRCh37]
Chr14:14q32.2		 uncertain significance
NC_000014.8:g.(?_96904152)_(96924569_?)del deletion not provided [RCV003113688] Chr14:96904152..96924569 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_152327.5(AK7):c.1144A>G (p.Ser382Gly) single nucleotide variant not provided [RCV002726553] Chr14:96456392 [GRCh38]
Chr14:96922729 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.459G>A (p.Ser153=) single nucleotide variant not provided [RCV002881538] Chr14:96408902 [GRCh38]
Chr14:96875239 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.638C>G (p.Ala213Gly) single nucleotide variant not provided [RCV003012440] Chr14:96437863 [GRCh38]
Chr14:96904200 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1556-2A>T single nucleotide variant not provided [RCV002613714] Chr14:96478463 [GRCh38]
Chr14:96944800 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1225C>T (p.Leu409=) single nucleotide variant not provided [RCV002615510] Chr14:96456473 [GRCh38]
Chr14:96922810 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1729C>T (p.Leu577Phe) single nucleotide variant Inborn genetic diseases [RCV002992204] Chr14:96478638 [GRCh38]
Chr14:96944975 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.310G>C (p.Asp104His) single nucleotide variant not provided [RCV002881350] Chr14:96404772 [GRCh38]
Chr14:96871109 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.54G>A (p.Gln18=) single nucleotide variant not provided [RCV002617990] Chr14:96392208 [GRCh38]
Chr14:96858545 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1702G>A (p.Glu568Lys) single nucleotide variant Inborn genetic diseases [RCV002865122] Chr14:96478611 [GRCh38]
Chr14:96944948 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.796A>G (p.Ile266Val) single nucleotide variant Inborn genetic diseases [RCV002754842] Chr14:96446533 [GRCh38]
Chr14:96912870 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1068C>T (p.Leu356=) single nucleotide variant not provided [RCV002616166] Chr14:96451540 [GRCh38]
Chr14:96917877 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1918C>T (p.Arg640Cys) single nucleotide variant Inborn genetic diseases [RCV002777917] Chr14:96483163 [GRCh38]
Chr14:96949500 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1826G>A (p.Arg609Gln) single nucleotide variant not provided [RCV002968143] Chr14:96483071 [GRCh38]
Chr14:96949408 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.665G>A (p.Gly222Glu) single nucleotide variant not provided [RCV002755251] Chr14:96437890 [GRCh38]
Chr14:96904227 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.105+4_105+9dup duplication not provided [RCV002776037] Chr14:96392262..96392263 [GRCh38]
Chr14:96858599..96858600 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1327G>A (p.Gly443Ser) single nucleotide variant Inborn genetic diseases [RCV002777280] Chr14:96458182 [GRCh38]
Chr14:96924519 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1227+12A>G single nucleotide variant not provided [RCV002996468] Chr14:96456487 [GRCh38]
Chr14:96922824 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1682G>C (p.Arg561Pro) single nucleotide variant Inborn genetic diseases [RCV002729797] Chr14:96478591 [GRCh38]
Chr14:96944928 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1061C>T (p.Thr354Ile) single nucleotide variant not provided [RCV002705985] Chr14:96451533 [GRCh38]
Chr14:96917870 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.691-12T>C single nucleotide variant not provided [RCV003037518] Chr14:96442718 [GRCh38]
Chr14:96909055 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.364A>C (p.Ser122Arg) single nucleotide variant not provided [RCV002663098] Chr14:96404826 [GRCh38]
Chr14:96871163 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1369G>A (p.Asp457Asn) single nucleotide variant not provided [RCV002571688] Chr14:96471489 [GRCh38]
Chr14:96937826 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1022G>A (p.Arg341Gln) single nucleotide variant Inborn genetic diseases [RCV002845450]|not provided [RCV003111690] Chr14:96451494 [GRCh38]
Chr14:96917831 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.712C>G (p.Pro238Ala) single nucleotide variant not provided [RCV002923858] Chr14:96442751 [GRCh38]
Chr14:96909088 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1640A>G (p.His547Arg) single nucleotide variant not provided [RCV002570101] Chr14:96478549 [GRCh38]
Chr14:96944886 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1249G>A (p.Asp417Asn) single nucleotide variant Inborn genetic diseases [RCV003001963]|not provided [RCV003001962] Chr14:96458104 [GRCh38]
Chr14:96924441 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1452A>G (p.Pro484=) single nucleotide variant AK7-related condition [RCV003943538]|not provided [RCV002913377] Chr14:96471572 [GRCh38]
Chr14:96937909 [GRCh37]
Chr14:14q32.2		 benign|likely benign
NM_152327.5(AK7):c.1753+9T>C single nucleotide variant not provided [RCV002591450] Chr14:96478671 [GRCh38]
Chr14:96945008 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.903C>A (p.Ile301=) single nucleotide variant not provided [RCV003078838] Chr14:96449834 [GRCh38]
Chr14:96916171 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.60G>T (p.Val20=) single nucleotide variant not provided [RCV002847563] Chr14:96392214 [GRCh38]
Chr14:96858551 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1216A>C (p.Ile406Leu) single nucleotide variant not provided [RCV002870798] Chr14:96456464 [GRCh38]
Chr14:96922801 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.357C>T (p.Ile119=) single nucleotide variant not provided [RCV002695396] Chr14:96404819 [GRCh38]
Chr14:96871156 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.804C>T (p.His268=) single nucleotide variant not provided [RCV002622305] Chr14:96446541 [GRCh38]
Chr14:96912878 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.285G>C (p.Glu95Asp) single nucleotide variant Inborn genetic diseases [RCV003088609]|not provided [RCV003080541] Chr14:96398254 [GRCh38]
Chr14:96864591 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.639_640insA (p.Ala214fs) insertion not provided [RCV002847865] Chr14:96437864..96437865 [GRCh38]
Chr14:96904201..96904202 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.568C>T (p.His190Tyr) single nucleotide variant not provided [RCV002662472] Chr14:96420891 [GRCh38]
Chr14:96887228 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1451C>T (p.Pro484Leu) single nucleotide variant not provided [RCV002639609] Chr14:96471571 [GRCh38]
Chr14:96937908 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.768T>C (p.Leu256=) single nucleotide variant not provided [RCV002621461] Chr14:96442807 [GRCh38]
Chr14:96909144 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1099-16C>A single nucleotide variant not provided [RCV002700710] Chr14:96456331 [GRCh38]
Chr14:96922668 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1825C>T (p.Arg609Ter) single nucleotide variant not provided [RCV003008195] Chr14:96483070 [GRCh38]
Chr14:96949407 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1682G>A (p.Arg561Gln) single nucleotide variant not provided [RCV002933411] Chr14:96478591 [GRCh38]
Chr14:96944928 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1099-14C>T single nucleotide variant not provided [RCV002642279] Chr14:96456333 [GRCh38]
Chr14:96922670 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1698C>T (p.Asp566=) single nucleotide variant AK7-related condition [RCV003943648]|not provided [RCV002954334] Chr14:96478607 [GRCh38]
Chr14:96944944 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.780-11T>G single nucleotide variant not provided [RCV003007863] Chr14:96446506 [GRCh38]
Chr14:96912843 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.323G>T (p.Arg108Leu) single nucleotide variant not provided [RCV002959063] Chr14:96404785 [GRCh38]
Chr14:96871122 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1040G>A (p.Gly347Glu) single nucleotide variant not provided [RCV002766494] Chr14:96451512 [GRCh38]
Chr14:96917849 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.198T>G (p.Ala66=) single nucleotide variant not provided [RCV002932549] Chr14:96398167 [GRCh38]
Chr14:96864504 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.212T>G (p.Val71Gly) single nucleotide variant Inborn genetic diseases [RCV002916584]|not provided [RCV003777952] Chr14:96398181 [GRCh38]
Chr14:96864518 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1581G>T (p.Ser527=) single nucleotide variant not provided [RCV002595695] Chr14:96478490 [GRCh38]
Chr14:96944827 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.949-15T>A single nucleotide variant not provided [RCV002666553] Chr14:96451406 [GRCh38]
Chr14:96917743 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1627G>C (p.Val543Leu) single nucleotide variant not provided [RCV003023090] Chr14:96478536 [GRCh38]
Chr14:96944873 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.996C>A (p.Leu332=) single nucleotide variant not provided [RCV002872603] Chr14:96451468 [GRCh38]
Chr14:96917805 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1276G>A (p.Glu426Lys) single nucleotide variant not provided [RCV002572473] Chr14:96458131 [GRCh38]
Chr14:96924468 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.610-17T>G single nucleotide variant not provided [RCV002786482] Chr14:96437818 [GRCh38]
Chr14:96904155 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1555+3A>G single nucleotide variant not provided [RCV002574464] Chr14:96472758 [GRCh38]
Chr14:96939095 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.304C>T (p.Arg102Ter) single nucleotide variant not provided [RCV002642532] Chr14:96404766 [GRCh38]
Chr14:96871103 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV002701394] Chr14:96392184 [GRCh38]
Chr14:96858521 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1075T>C (p.Tyr359His) single nucleotide variant not provided [RCV002701193] Chr14:96451547 [GRCh38]
Chr14:96917884 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1709T>C (p.Val570Ala) single nucleotide variant not provided [RCV002643776] Chr14:96478618 [GRCh38]
Chr14:96944955 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.294+14G>T single nucleotide variant not provided [RCV003042976] Chr14:96398277 [GRCh38]
Chr14:96864614 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.690+16A>T single nucleotide variant not provided [RCV002575241] Chr14:96437931 [GRCh38]
Chr14:96904268 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.33G>C (p.Thr11=) single nucleotide variant not provided [RCV002666897] Chr14:96392187 [GRCh38]
Chr14:96858524 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1233G>A (p.Ala411=) single nucleotide variant not provided [RCV002642204] Chr14:96458088 [GRCh38]
Chr14:96924425 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1825C>G (p.Arg609Gly) single nucleotide variant not provided [RCV002828141] Chr14:96483070 [GRCh38]
Chr14:96949407 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1181A>G (p.His394Arg) single nucleotide variant AK7-related condition [RCV003906316]|not provided [RCV002932245] Chr14:96456429 [GRCh38]
Chr14:96922766 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1846G>A (p.Glu616Lys) single nucleotide variant not provided [RCV002953850] Chr14:96483091 [GRCh38]
Chr14:96949428 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1886G>A (p.Arg629Gln) single nucleotide variant Inborn genetic diseases [RCV002984638]|not provided [RCV003111742] Chr14:96483131 [GRCh38]
Chr14:96949468 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2060A>G (p.Tyr687Cys) single nucleotide variant not provided [RCV003003329] Chr14:96486983 [GRCh38]
Chr14:96953320 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1556-9_1556-7del deletion not provided [RCV002954393] Chr14:96478454..96478456 [GRCh38]
Chr14:96944791..96944793 [GRCh37]
Chr14:14q32.2		 likely benign|uncertain significance
NM_152327.5(AK7):c.402T>C (p.Ser134=) single nucleotide variant not provided [RCV003005089] Chr14:96404864 [GRCh38]
Chr14:96871201 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.153GGAAGA[2] (p.Glu55_Glu56del) microsatellite not provided [RCV002629183] Chr14:96398119..96398124 [GRCh38]
Chr14:96864456..96864461 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1627G>A (p.Val543Met) single nucleotide variant not provided [RCV002601456] Chr14:96478536 [GRCh38]
Chr14:96944873 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.992C>T (p.Ala331Val) single nucleotide variant not provided [RCV002651318] Chr14:96451464 [GRCh38]
Chr14:96917801 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1016A>G (p.Asn339Ser) single nucleotide variant not provided [RCV002649773] Chr14:96451488 [GRCh38]
Chr14:96917825 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.802C>T (p.His268Tyr) single nucleotide variant not provided [RCV003010480] Chr14:96446539 [GRCh38]
Chr14:96912876 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1486+18_1486+22del deletion not provided [RCV002577264] Chr14:96471623..96471627 [GRCh38]
Chr14:96937960..96937964 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1357+16C>T single nucleotide variant not provided [RCV002579768] Chr14:96458228 [GRCh38]
Chr14:96924565 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2095T>A (p.Cys699Ser) single nucleotide variant not provided [RCV002715480] Chr14:96487018 [GRCh38]
Chr14:96953355 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.722C>T (p.Pro241Leu) single nucleotide variant not provided [RCV002791848] Chr14:96442761 [GRCh38]
Chr14:96909098 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.793G>T (p.Val265Phe) single nucleotide variant Inborn genetic diseases [RCV002714095] Chr14:96446530 [GRCh38]
Chr14:96912867 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.535C>T (p.Arg179Ter) single nucleotide variant not provided [RCV002672276] Chr14:96420858 [GRCh38]
Chr14:96887195 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.242C>T (p.Thr81Met) single nucleotide variant Inborn genetic diseases [RCV002598951]|not provided [RCV002588038] Chr14:96398211 [GRCh38]
Chr14:96864548 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2103C>T (p.Asn701=) single nucleotide variant not provided [RCV003063294] Chr14:96487026 [GRCh38]
Chr14:96953363 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1248C>T (p.Asn416=) single nucleotide variant not provided [RCV002579329] Chr14:96458103 [GRCh38]
Chr14:96924440 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2134-10T>A single nucleotide variant not provided [RCV002834070] Chr14:96488295 [GRCh38]
Chr14:96954632 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1754-17T>C single nucleotide variant not provided [RCV002600866] Chr14:96482982 [GRCh38]
Chr14:96949319 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.596A>G (p.Lys199Arg) single nucleotide variant not provided [RCV002647834] Chr14:96420919 [GRCh38]
Chr14:96887256 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1186A>G (p.Ile396Val) single nucleotide variant not provided [RCV002600281] Chr14:96456434 [GRCh38]
Chr14:96922771 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2058C>T (p.Thr686=) single nucleotide variant not provided [RCV002922254] Chr14:96486981 [GRCh38]
Chr14:96953318 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1357+8A>G single nucleotide variant not provided [RCV003028906] Chr14:96458220 [GRCh38]
Chr14:96924557 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.776C>T (p.Ala259Val) single nucleotide variant not provided [RCV002811164] Chr14:96442815 [GRCh38]
Chr14:96909152 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.870+20T>C single nucleotide variant not provided [RCV002649521] Chr14:96446627 [GRCh38]
Chr14:96912964 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1265AAG[2] (p.Glu424del) microsatellite not provided [RCV002579093] Chr14:96458118..96458120 [GRCh38]
Chr14:96924455..96924457 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1617T>C (p.Pro539=) single nucleotide variant not provided [RCV002806307] Chr14:96478526 [GRCh38]
Chr14:96944863 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2134-18T>C single nucleotide variant not provided [RCV002856778] Chr14:96488287 [GRCh38]
Chr14:96954624 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1580C>T (p.Ser527Leu) single nucleotide variant Inborn genetic diseases [RCV002896384] Chr14:96478489 [GRCh38]
Chr14:96944826 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.996C>G (p.Leu332=) single nucleotide variant not provided [RCV002634766] Chr14:96451468 [GRCh38]
Chr14:96917805 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2112C>T (p.Pro704=) single nucleotide variant not provided [RCV003092795] Chr14:96487035 [GRCh38]
Chr14:96953372 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1974+18_1974+21del deletion not provided [RCV002584608] Chr14:96483234..96483237 [GRCh38]
Chr14:96949571..96949574 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.871-3_871-2del deletion not provided [RCV002680857] Chr14:96449798..96449799 [GRCh38]
Chr14:96916135..96916136 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.341T>A (p.Val114Asp) single nucleotide variant not provided [RCV002653025] Chr14:96404803 [GRCh38]
Chr14:96871140 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.168A>G (p.Glu56=) single nucleotide variant not provided [RCV003093727] Chr14:96398137 [GRCh38]
Chr14:96864474 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.205A>T (p.Thr69Ser) single nucleotide variant not provided [RCV002582479] Chr14:96398174 [GRCh38]
Chr14:96864511 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1486+16C>T single nucleotide variant not provided [RCV002587725] Chr14:96471622 [GRCh38]
Chr14:96937959 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.273C>T (p.Asp91=) single nucleotide variant not provided [RCV002589776] Chr14:96398242 [GRCh38]
Chr14:96864579 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1905T>G (p.Ala635=) single nucleotide variant not provided [RCV002680734] Chr14:96483150 [GRCh38]
Chr14:96949487 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.499-5A>G single nucleotide variant not provided [RCV002585331] Chr14:96420817 [GRCh38]
Chr14:96887154 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.871-16G>A single nucleotide variant not provided [RCV002590092] Chr14:96449786 [GRCh38]
Chr14:96916123 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.927A>G (p.Ala309=) single nucleotide variant not provided [RCV003071092] Chr14:96449858 [GRCh38]
Chr14:96916195 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2075T>G (p.Leu692Arg) single nucleotide variant not provided [RCV002610839] Chr14:96486998 [GRCh38]
Chr14:96953335 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1845C>A (p.Asp615Glu) single nucleotide variant not provided [RCV002606302] Chr14:96483090 [GRCh38]
Chr14:96949427 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1651G>A (p.Asp551Asn) single nucleotide variant Inborn genetic diseases [RCV002723764] Chr14:96478560 [GRCh38]
Chr14:96944897 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.243G>A (p.Thr81=) single nucleotide variant not provided [RCV002607630] Chr14:96398212 [GRCh38]
Chr14:96864549 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.105+16G>T single nucleotide variant not provided [RCV002588893] Chr14:96392275 [GRCh38]
Chr14:96858612 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.458C>T (p.Ser153Leu) single nucleotide variant not provided [RCV003072871] Chr14:96408901 [GRCh38]
Chr14:96875238 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1340G>T (p.Ser447Ile) single nucleotide variant not provided [RCV002612663] Chr14:96458195 [GRCh38]
Chr14:96924532 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1474G>T (p.Asp492Tyr) single nucleotide variant Inborn genetic diseases [RCV003212940] Chr14:96471594 [GRCh38]
Chr14:96937931 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.733G>A (p.Asp245Asn) single nucleotide variant Inborn genetic diseases [RCV003205473] Chr14:96442772 [GRCh38]
Chr14:96909109 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1418G>T (p.Cys473Phe) single nucleotide variant Inborn genetic diseases [RCV003184327]|not provided [RCV003730434] Chr14:96471538 [GRCh38]
Chr14:96937875 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.295G>C (p.Ala99Pro) single nucleotide variant Inborn genetic diseases [RCV003214262] Chr14:96404757 [GRCh38]
Chr14:96871094 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.929A>G (p.Tyr310Cys) single nucleotide variant Inborn genetic diseases [RCV003201091] Chr14:96449860 [GRCh38]
Chr14:96916197 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.447T>G (p.Phe149Leu) single nucleotide variant Inborn genetic diseases [RCV003262066] Chr14:96408890 [GRCh38]
Chr14:96875227 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.471T>C (p.Thr157=) single nucleotide variant not provided [RCV003393595] Chr14:96408914 [GRCh38]
Chr14:96875251 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.477G>A (p.Ala159=) single nucleotide variant not provided [RCV003874255] Chr14:96408920 [GRCh38]
Chr14:96875257 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.106-14C>G single nucleotide variant not provided [RCV003543839] Chr14:96398061 [GRCh38]
Chr14:96864398 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1877C>T (p.Ala626Val) single nucleotide variant not provided [RCV003569290] Chr14:96483122 [GRCh38]
Chr14:96949459 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_001350888.2(AK7):c.1486+1091_1486+1105del deletion not provided [RCV003678188] Chr14:96472686..96472700 [GRCh38]
Chr14:96939023..96939037 [GRCh37]
Chr14:14q32.2		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_152327.5(AK7):c.1598A>T (p.Glu533Val) single nucleotide variant not provided [RCV003666228] Chr14:96478507 [GRCh38]
Chr14:96944844 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1364T>C (p.Leu455Pro) single nucleotide variant not provided [RCV003573956] Chr14:96471484 [GRCh38]
Chr14:96937821 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1486+12T>C single nucleotide variant not provided [RCV003881446] Chr14:96471618 [GRCh38]
Chr14:96937955 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.952G>A (p.Asp318Asn) single nucleotide variant not provided [RCV003660541] Chr14:96451424 [GRCh38]
Chr14:96917761 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2091T>A (p.Asn697Lys) single nucleotide variant not provided [RCV003879683] Chr14:96487014 [GRCh38]
Chr14:96953351 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.82T>A (p.Tyr28Asn) single nucleotide variant not provided [RCV003739859] Chr14:96392236 [GRCh38]
Chr14:96858573 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1486+2T>C single nucleotide variant not provided [RCV003695484] Chr14:96471608 [GRCh38]
Chr14:96937945 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.403+2T>A single nucleotide variant not provided [RCV003694208] Chr14:96404867 [GRCh38]
Chr14:96871204 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.105+16G>A single nucleotide variant not provided [RCV003661633] Chr14:96392275 [GRCh38]
Chr14:96858612 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.106-7C>A single nucleotide variant not provided [RCV003687225] Chr14:96398068 [GRCh38]
Chr14:96864405 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.517T>C (p.Phe173Leu) single nucleotide variant not provided [RCV003572590] Chr14:96420840 [GRCh38]
Chr14:96887177 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.294+20G>A single nucleotide variant not provided [RCV003695345] Chr14:96398283 [GRCh38]
Chr14:96864620 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.105+9C>T single nucleotide variant not provided [RCV003714167] Chr14:96392268 [GRCh38]
Chr14:96858605 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.294+20G>T single nucleotide variant not provided [RCV003574188] Chr14:96398283 [GRCh38]
Chr14:96864620 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1742C>T (p.Pro581Leu) single nucleotide variant not provided [RCV003880535] Chr14:96478651 [GRCh38]
Chr14:96944988 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1058A>C (p.Asn353Thr) single nucleotide variant not provided [RCV003546239] Chr14:96451530 [GRCh38]
Chr14:96917867 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1513G>T (p.Val505Phe) single nucleotide variant not provided [RCV003691561] Chr14:96472713 [GRCh38]
Chr14:96939050 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.377T>G (p.Met126Arg) single nucleotide variant not provided [RCV003662644] Chr14:96404839 [GRCh38]
Chr14:96871176 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.609G>A (p.Lys203=) single nucleotide variant not provided [RCV003575860] Chr14:96420932 [GRCh38]
Chr14:96887269 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.690+18G>A single nucleotide variant not provided [RCV003687255] Chr14:96437933 [GRCh38]
Chr14:96904270 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.287C>G (p.Thr96Arg) single nucleotide variant not provided [RCV003879862] Chr14:96398256 [GRCh38]
Chr14:96864593 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1252G>A (p.Val418Ile) single nucleotide variant not provided [RCV003693350] Chr14:96458107 [GRCh38]
Chr14:96924444 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.277G>A (p.Ala93Thr) single nucleotide variant not provided [RCV003879052] Chr14:96398246 [GRCh38]
Chr14:96864583 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1597G>A (p.Glu533Lys) single nucleotide variant not provided [RCV003547961] Chr14:96478506 [GRCh38]
Chr14:96944843 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1313A>T (p.Gln438Leu) single nucleotide variant not provided [RCV002880445] Chr14:96458168 [GRCh38]
Chr14:96924505 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.100G>A (p.Gly34Arg) single nucleotide variant not provided [RCV002574107] Chr14:96392254 [GRCh38]
Chr14:96858591 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2070A>G (p.Pro690=) single nucleotide variant not provided [RCV003835347] Chr14:96486993 [GRCh38]
Chr14:96953330 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1040G>T (p.Gly347Val) single nucleotide variant not provided [RCV003812135] Chr14:96451512 [GRCh38]
Chr14:96917849 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.670A>G (p.Met224Val) single nucleotide variant not provided [RCV003717786] Chr14:96437895 [GRCh38]
Chr14:96904232 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1869G>C (p.Arg623=) single nucleotide variant not provided [RCV003833078] Chr14:96483114 [GRCh38]
Chr14:96949451 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.7G>A (p.Glu3Lys) single nucleotide variant not provided [RCV003717970] Chr14:96392161 [GRCh38]
Chr14:96858498 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2146T>C (p.Phe716Leu) single nucleotide variant not provided [RCV003548339] Chr14:96488317 [GRCh38]
Chr14:96954654 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2059T>C (p.Tyr687His) single nucleotide variant not provided [RCV003852045] Chr14:96486982 [GRCh38]
Chr14:96953319 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.779+10C>T single nucleotide variant not provided [RCV003548661] Chr14:96442828 [GRCh38]
Chr14:96909165 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.22G>C (p.Ala8Pro) single nucleotide variant not provided [RCV003658923] Chr14:96392176 [GRCh38]
Chr14:96858513 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1899G>C (p.Glu633Asp) single nucleotide variant not provided [RCV003840284] Chr14:96483144 [GRCh38]
Chr14:96949481 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.668G>A (p.Gly223Asp) single nucleotide variant not provided [RCV003726193] Chr14:96437893 [GRCh38]
Chr14:96904230 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.957T>A (p.Cys319Ter) single nucleotide variant not provided [RCV003851070] Chr14:96451429 [GRCh38]
Chr14:96917766 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1497GGA[2] (p.Glu502del) microsatellite not provided [RCV003725377] Chr14:96472695..96472697 [GRCh38]
Chr14:96939032..96939034 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.603A>G (p.Gly201=) single nucleotide variant not provided [RCV003672970] Chr14:96420926 [GRCh38]
Chr14:96887263 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1990G>T (p.Glu664Ter) single nucleotide variant not provided [RCV003840012] Chr14:96486913 [GRCh38]
Chr14:96953250 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1962C>T (p.Arg654=) single nucleotide variant not provided [RCV003836318] Chr14:96483207 [GRCh38]
Chr14:96949544 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.436C>T (p.Arg146Ter) single nucleotide variant not provided [RCV003664665] Chr14:96408879 [GRCh38]
Chr14:96875216 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1273G>T (p.Val425Phe) single nucleotide variant not provided [RCV003659172] Chr14:96458128 [GRCh38]
Chr14:96924465 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.986T>C (p.Met329Thr) single nucleotide variant not provided [RCV003670035] Chr14:96451458 [GRCh38]
Chr14:96917795 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.135G>C (p.Ser45=) single nucleotide variant not provided [RCV003580082] Chr14:96398104 [GRCh38]
Chr14:96864441 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.262_263insTGCC (p.Pro88fs) insertion not provided [RCV003725908] Chr14:96398228..96398229 [GRCh38]
Chr14:96864565..96864566 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1300G>A (p.Val434Met) single nucleotide variant not provided [RCV003839468] Chr14:96458155 [GRCh38]
Chr14:96924492 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1275C>T (p.Val425=) single nucleotide variant not provided [RCV003817115] Chr14:96458130 [GRCh38]
Chr14:96924467 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.105+10G>T single nucleotide variant not provided [RCV003559796] Chr14:96392269 [GRCh38]
Chr14:96858606 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1800G>A (p.Gln600=) single nucleotide variant not provided [RCV003725065] Chr14:96483045 [GRCh38]
Chr14:96949382 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.278C>T (p.Ala93Val) single nucleotide variant not provided [RCV003854407] Chr14:96398247 [GRCh38]
Chr14:96864584 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1655G>A (p.Arg552Gln) single nucleotide variant not provided [RCV003816215] Chr14:96478564 [GRCh38]
Chr14:96944901 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1605G>A (p.Val535=) single nucleotide variant not provided [RCV003561400] Chr14:96478514 [GRCh38]
Chr14:96944851 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.294+10G>A single nucleotide variant not provided [RCV003856138] Chr14:96398273 [GRCh38]
Chr14:96864610 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1695C>T (p.Ile565=) single nucleotide variant AK7-related condition [RCV003901321]|not provided [RCV003725551] Chr14:96478604 [GRCh38]
Chr14:96944941 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.866T>G (p.Val289Gly) single nucleotide variant not provided [RCV003670126] Chr14:96446603 [GRCh38]
Chr14:96912940 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1885C>T (p.Arg629Trp) single nucleotide variant not provided [RCV003665720] Chr14:96483130 [GRCh38]
Chr14:96949467 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.2133+8_2133+9del microsatellite not provided [RCV003816364] Chr14:96487062..96487063 [GRCh38]
Chr14:96953399..96953400 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.696T>A (p.Ala232=) single nucleotide variant not provided [RCV003696868] Chr14:96442735 [GRCh38]
Chr14:96909072 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1008G>C (p.Glu336Asp) single nucleotide variant not provided [RCV003851071] Chr14:96451480 [GRCh38]
Chr14:96917817 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.403+11T>G single nucleotide variant not provided [RCV003665384] Chr14:96404876 [GRCh38]
Chr14:96871213 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.546G>A (p.Lys182=) single nucleotide variant not provided [RCV003666052] Chr14:96420869 [GRCh38]
Chr14:96887206 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.779+3A>G single nucleotide variant not provided [RCV003727038] Chr14:96442821 [GRCh38]
Chr14:96909158 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.498+4A>T single nucleotide variant not provided [RCV003862717] Chr14:96408945 [GRCh38]
Chr14:96875282 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1255G>A (p.Gly419Arg) single nucleotide variant not provided [RCV003864862] Chr14:96458110 [GRCh38]
Chr14:96924447 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.498+2dup duplication not provided [RCV003728356] Chr14:96408942..96408943 [GRCh38]
Chr14:96875279..96875280 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1894A>G (p.Arg632Gly) single nucleotide variant not provided [RCV003729777] Chr14:96483139 [GRCh38]
Chr14:96949476 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.105G>A (p.Lys35=) single nucleotide variant not provided [RCV003821042] Chr14:96392259 [GRCh38]
Chr14:96858596 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1104C>T (p.Ile368=) single nucleotide variant not provided [RCV003730046] Chr14:96456352 [GRCh38]
Chr14:96922689 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1901C>T (p.Ala634Val) single nucleotide variant not provided [RCV003678833] Chr14:96483146 [GRCh38]
Chr14:96949483 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.498+15A>G single nucleotide variant not provided [RCV003822617] Chr14:96408956 [GRCh38]
Chr14:96875293 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.690+20C>G single nucleotide variant not provided [RCV003674870] Chr14:96437935 [GRCh38]
Chr14:96904272 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1905T>C (p.Ala635=) single nucleotide variant not provided [RCV003564207] Chr14:96483150 [GRCh38]
Chr14:96949487 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1877C>A (p.Ala626Glu) single nucleotide variant not provided [RCV003859010] Chr14:96483122 [GRCh38]
Chr14:96949459 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.25G>C (p.Ala9Pro) single nucleotide variant not provided [RCV003853260] Chr14:96392179 [GRCh38]
Chr14:96858516 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1386A>T (p.Arg462Ser) single nucleotide variant not provided [RCV003712293] Chr14:96471506 [GRCh38]
Chr14:96937843 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1988A>G (p.Glu663Gly) single nucleotide variant not provided [RCV003729671] Chr14:96486911 [GRCh38]
Chr14:96953248 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.948+11G>A single nucleotide variant not provided [RCV003818896] Chr14:96449890 [GRCh38]
Chr14:96916227 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.135G>A (p.Ser45=) single nucleotide variant not provided [RCV003563326] Chr14:96398104 [GRCh38]
Chr14:96864441 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.639T>C (p.Ala213=) single nucleotide variant not provided [RCV003553396] Chr14:96437864 [GRCh38]
Chr14:96904201 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.404-19C>T single nucleotide variant not provided [RCV003843386] Chr14:96408828 [GRCh38]
Chr14:96875165 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1592T>C (p.Leu531Pro) single nucleotide variant not provided [RCV003722439] Chr14:96478501 [GRCh38]
Chr14:96944838 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.548C>T (p.Ser183Phe) single nucleotide variant not provided [RCV003867501] Chr14:96420871 [GRCh38]
Chr14:96887208 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.917G>C (p.Arg306Thr) single nucleotide variant not provided [RCV003845902] Chr14:96449848 [GRCh38]
Chr14:96916185 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.648C>T (p.Leu216=) single nucleotide variant not provided [RCV003864514] Chr14:96437873 [GRCh38]
Chr14:96904210 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2133+25dup duplication not provided [RCV003683764] Chr14:96487074..96487075 [GRCh38]
Chr14:96953411..96953412 [GRCh37]
Chr14:14q32.2		 benign
NM_152327.5(AK7):c.1868G>A (p.Arg623Gln) single nucleotide variant not provided [RCV003730929] Chr14:96483113 [GRCh38]
Chr14:96949450 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.657A>G (p.Gly219=) single nucleotide variant not provided [RCV003703982] Chr14:96437882 [GRCh38]
Chr14:96904219 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1867C>T (p.Arg623Trp) single nucleotide variant not provided [RCV003720460] Chr14:96483112 [GRCh38]
Chr14:96949449 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.287C>T (p.Thr96Met) single nucleotide variant not provided [RCV003863949] Chr14:96398256 [GRCh38]
Chr14:96864593 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.706G>A (p.Glu236Lys) single nucleotide variant not provided [RCV003721959] Chr14:96442745 [GRCh38]
Chr14:96909082 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.498C>A (p.Pro166=) single nucleotide variant not provided [RCV003823724] Chr14:96408941 [GRCh38]
Chr14:96875278 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1753+9T>G single nucleotide variant not provided [RCV003845657] Chr14:96478671 [GRCh38]
Chr14:96945008 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1522A>G (p.Arg508Gly) single nucleotide variant not provided [RCV003729234] Chr14:96472722 [GRCh38]
Chr14:96939059 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1681C>T (p.Arg561Trp) single nucleotide variant not provided [RCV003820476] Chr14:96478590 [GRCh38]
Chr14:96944927 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1098+3A>G single nucleotide variant not provided [RCV003732364] Chr14:96451573 [GRCh38]
Chr14:96917910 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1000G>A (p.Val334Met) single nucleotide variant not provided [RCV003819474] Chr14:96451472 [GRCh38]
Chr14:96917809 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1701T>C (p.Asp567=) single nucleotide variant not provided [RCV003862704] Chr14:96478610 [GRCh38]
Chr14:96944947 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1875T>C (p.Ala625=) single nucleotide variant not provided [RCV003730596] Chr14:96483120 [GRCh38]
Chr14:96949457 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.973G>T (p.Val325Phe) single nucleotide variant not provided [RCV003861189] Chr14:96451445 [GRCh38]
Chr14:96917782 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1232C>G (p.Ala411Gly) single nucleotide variant not provided [RCV003566974] Chr14:96458087 [GRCh38]
Chr14:96924424 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.334T>G (p.Cys112Gly) single nucleotide variant not provided [RCV003706754] Chr14:96404796 [GRCh38]
Chr14:96871133 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.779+10C>A single nucleotide variant not provided [RCV003862280] Chr14:96442828 [GRCh38]
Chr14:96909165 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.1748A>G (p.His583Arg) single nucleotide variant not provided [RCV003860297] Chr14:96478657 [GRCh38]
Chr14:96944994 [GRCh37]
Chr14:14q32.2		 uncertain significance
NM_152327.5(AK7):c.1753+16A>G single nucleotide variant not provided [RCV003705931] Chr14:96478678 [GRCh38]
Chr14:96945015 [GRCh37]
Chr14:14q32.2		 likely benign
NM_152327.5(AK7):c.2134-336A>C single nucleotide variant AK7-related condition [RCV003951729] Chr14:96487969 [GRCh38]
Chr14:96954306 [GRCh37]
Chr14:14q32.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1388
Count of miRNA genes:868
Interacting mature miRNAs:1000
Transcripts:ENST00000267584, ENST00000554313, ENST00000554706, ENST00000555570, ENST00000556643
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
D10S1151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,921,472 - 96,921,976UniSTSGRCh37
GRCh371080,282,537 - 80,282,902UniSTSGRCh37
Celera1476,977,209 - 76,977,713UniSTS
Celera1073,569,180 - 73,569,545UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map10q22.3UniSTS
HuRef768,493,072 - 68,493,472UniSTS
HuRef1477,106,330 - 77,106,834UniSTS
HuRef5162,758,939 - 162,759,080UniSTS
HuRef1074,277,572 - 74,277,993UniSTS
HuRef768,164,576 - 68,164,941UniSTS
Marshfield Genetic Map10100.08RGD
Marshfield Genetic Map10100.08UniSTS
GDB:451706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712118,582,594 - 118,582,678UniSTSGRCh37
GRCh371198,648,194 - 198,648,277UniSTSGRCh37
Build 361196,914,817 - 196,914,900RGDNCBI36
Celera12118,213,675 - 118,213,759UniSTS
Celera1171,770,723 - 171,770,806RGD
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map12q24.23UniSTS
HuRef12115,592,557 - 115,592,641UniSTS
HuRef1169,815,423 - 169,815,506UniSTS
HuRef1477,074,965 - 77,075,049UniSTS
G35577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,916,879 - 96,917,067UniSTSGRCh37
Build 361495,986,632 - 95,986,820RGDNCBI36
Celera1476,972,618 - 76,972,805RGD
Cytogenetic Map14q32.2UniSTS
HuRef1477,101,739 - 77,101,926UniSTS
G35398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,915,566 - 96,915,717UniSTSGRCh37
Build 361495,985,319 - 95,985,470RGDNCBI36
Celera1476,971,306 - 76,971,457RGD
Cytogenetic Map14q32.2UniSTS
HuRef1477,100,426 - 77,100,577UniSTS
G35998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371496,950,628 - 96,950,794UniSTSGRCh37
Build 361496,020,381 - 96,020,547RGDNCBI36
Celera1477,006,361 - 77,006,527RGD
Cytogenetic Map14q32.2UniSTS
HuRef1477,135,543 - 77,135,709UniSTS


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 9 6 2 7 5 47 18 56 72 7 1
Low 1498 163 1435 359 886 224 2579 415 2430 331 1144 1451 149 1 883 1161 3 2
Below cutoff 931 2637 284 264 870 240 1737 1744 1254 65 259 90 25 320 1589 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK057426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000267584   ⟹   ENSP00000267584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,392,128 - 96,489,427 (+)Ensembl
RefSeq Acc Id: ENST00000554313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,398,198 - 96,421,566 (+)Ensembl
RefSeq Acc Id: ENST00000554706   ⟹   ENSP00000450453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,482,982 - 96,488,275 (+)Ensembl
RefSeq Acc Id: ENST00000555570   ⟹   ENSP00000451068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,392,133 - 96,399,292 (+)Ensembl
RefSeq Acc Id: ENST00000556643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1496,392,144 - 96,405,052 (+)Ensembl
RefSeq Acc Id: NM_001350888   ⟹   NP_001337817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350890   ⟹   NP_001337819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350891   ⟹   NP_001337820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350892   ⟹   NP_001337821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152327   ⟹   NP_689540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
GRCh371496,858,448 - 96,955,764 (+)NCBI
Build 361495,928,201 - 96,024,865 (+)NCBI Archive
Celera1476,914,175 - 77,010,845 (+)RGD
HuRef1477,043,535 - 77,140,413 (+)NCBI
CHM1_11496,797,289 - 96,894,524 (+)NCBI
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720021   ⟹   XP_006720084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720022   ⟹   XP_006720085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020958   ⟹   XP_016876447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020960   ⟹   XP_016876449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430913   ⟹   XP_047286869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381496,392,128 - 96,489,427 (+)NCBI
RefSeq Acc Id: XM_054375339   ⟹   XP_054231314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
RefSeq Acc Id: XM_054375340   ⟹   XP_054231315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
RefSeq Acc Id: XM_054375341   ⟹   XP_054231316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
RefSeq Acc Id: XM_054375342   ⟹   XP_054231317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
RefSeq Acc Id: XM_054375343   ⟹   XP_054231318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01490,623,724 - 90,721,030 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_689540   ⟸   NM_152327
- Peptide Label: isoform 1
- UniProtKB: Q8IYP6 (UniProtKB/Swiss-Prot),   Q96M32 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720084   ⟸   XM_006720021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006720085   ⟸   XM_006720022
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016876447   ⟸   XM_017020958
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016876449   ⟸   XM_017020960
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001337817   ⟸   NM_001350888
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001337819   ⟸   NM_001350890
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001337821   ⟸   NM_001350892
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001337820   ⟸   NM_001350891
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000451068   ⟸   ENST00000555570
RefSeq Acc Id: ENSP00000267584   ⟸   ENST00000267584
RefSeq Acc Id: ENSP00000450453   ⟸   ENST00000554706
RefSeq Acc Id: XP_047286869   ⟸   XM_047430913
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054231314   ⟸   XM_054375339
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054231317   ⟸   XM_054375342
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054231315   ⟸   XM_054375340
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231316   ⟸   XM_054375341
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054231318   ⟸   XM_054375343
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96M32-F1-model_v2 AlphaFold Q96M32 1-723 view protein structure

Promoters
RGD ID:6791247
Promoter ID:HG_KWN:20125
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:ENST00000267584,   UC001YFM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361495,927,716 - 95,928,417 (+)MPROMDB
RGD ID:7228591
Promoter ID:EPDNEW_H20042
Type:initiation region
Name:AK7_1
Description:adenylate kinase 7
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
GRCh381496,392,143 - 96,392,203EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20091 AgrOrtholog
COSMIC AK7 COSMIC
Ensembl Genes ENSG00000140057 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000267584 ENTREZGENE
  ENST00000267584.9 UniProtKB/Swiss-Prot
  ENST00000554706.1 UniProtKB/TrEMBL
  ENST00000555570.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
  cAMP-dependent protein kinase regulatory subunit, dimerization-anchoring domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
GTEx ENSG00000140057 GTEx
HGNC ID HGNC:20091 ENTREZGENE
Human Proteome Map AK7 Human Proteome Map
InterPro Adenylat/UMP-CMP_kin UniProtKB/Swiss-Prot
  DD_AK7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dpy-30_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:122481 UniProtKB/Swiss-Prot
NCBI Gene 122481 ENTREZGENE
OMIM 615364 OMIM
PANTHER PTHR23359 UniProtKB/Swiss-Prot
  PTHR23359:SF105 UniProtKB/Swiss-Prot
Pfam ADK UniProtKB/Swiss-Prot
  Dpy-30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134963502 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt G3V365_HUMAN UniProtKB/TrEMBL
  H0YIY5_HUMAN UniProtKB/TrEMBL
  KAD7_HUMAN UniProtKB/Swiss-Prot
  Q8IYP6 ENTREZGENE
  Q96M32 ENTREZGENE
UniProt Secondary Q8IYP6 UniProtKB/Swiss-Prot