chrX:67545785:G>A Detail (hg38) (AR)

Information

Genome

Assembly Position
hg19 chrX:66,765,627-66,765,627 View the variant detail on this assembly version.
hg38 chrX:67,545,785-67,545,785

HGVS

Type Transcript Protein
RefSeq NM_000044.3:c.639G>A NP_000035.2:p.Glu213=
NM_001348061.1:c.639G>A NP_001334990.1:p.Glu213=
Ensemble ENST00000374690.9:c.639G>A ENST00000374690.9:p.Glu213=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 313700 OMIM
HGNC 644 HGNC
Ensembl ENSG00000169083 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66648391 TogoVar
COSMIC COSM5019465 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-07-10 no assertion criteria provided Androgen resistance syndrome germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-02-01 criteria provided, single submitter Androgen resistance syndrome,Kennedy disease germline Detail
Benign 2024-02-01 criteria provided, single submitter Androgen resistance syndrome,Kennedy disease germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Ovarian Diseases The rs6152G/A AR gene polymorphism has been reported to be associated with male ... BeFree 20450840 Detail
0.012 Androgenetic Alopecia We confirmed that the AR gene polymorphism (SNP rs6152 G>A) is associated wit... BeFree 24665929 Detail
0.280 Malignant neoplasm of prostate Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152... BeFree 24665929 Detail
0.012 Androgenetic Alopecia The rs6152G/A AR gene polymorphism has been reported to be associated with male ... BeFree 20450840 Detail
0.080 prostate carcinoma Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152... BeFree 24665929 Detail
0.041 polycystic ovary syndrome [, the individuals carrying the rs6152A allele had significantly higher suscepti... GAD 20450840 Detail
0.014 Benign Prostatic Hyperplasia We confirmed that the AR gene polymorphism (SNP rs6152 G>A) is associated wit... BeFree 24665929 Detail
0.011 Benign Prostatic Hyperplasia Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152... BeFree 24665929 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000044.6(AR):c.639G>A (p.Glu213=) AND Androgen resistance syndrome ClinVar Detail
NM_000044.6(AR):c.639G>A (p.Glu213=) AND not specified ClinVar Detail
NM_000044.6(AR):c.639G>A (p.Glu213=) AND multiple conditions ClinVar Detail
NM_000044.6(AR):c.639G>A (p.Glu213=) AND multiple conditions ClinVar Detail
NM_000044.6(AR):c.639G>A (p.Glu213=) AND not provided ClinVar Detail
The rs6152G/A AR gene polymorphism has been reported to be associated with male pattern baldness (MP... DisGeNET Detail
We confirmed that the AR gene polymorphism (SNP rs6152 G>A) is associated with the development of... DisGeNET Detail
Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with b... DisGeNET Detail
The rs6152G/A AR gene polymorphism has been reported to be associated with male pattern baldness (MP... DisGeNET Detail
Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with b... DisGeNET Detail
[, the individuals carrying the rs6152A allele had significantly higher susceptibility to polycystic... DisGeNET Detail
We confirmed that the AR gene polymorphism (SNP rs6152 G>A) is associated with the development of... DisGeNET Detail
Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with b... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6152 dbSNP
Genome
hg38
Position
chrX:67,545,785-67,545,785
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
84.46
Standard deviation of sample read depth (HGVD)
49.39
Number of reference allele (HGVD)
2413
Number of alternative allele (HGVD)
7
Allele Frequency (HGVD)
0.002892561983471074
Gene Symbol (HGVD)
AR
East Asian Chromosome Counts (ExAC)
6207
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
8
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0014499758337361043
Chromosome Counts in All Race (ExAC)
80443
Allele Counts in All Race (ExAC)
14054
Heterozygous Counts in All Race (ExAC)
6336
Homozygous Counts in All Race (ExAC)
1670
Allele Frequency in All Race (ExAC)
0.17470755690364606
East Asian Hemizygous Counts (ExAC)
1
Hemizygous Counts in All Race (ExAC)
4378
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