chrX:66931318:G>A Detail (hg19) (AR)

Information

Genome

Assembly Position
hg19 chrX:66,931,318-66,931,318
hg38 chrX:67,711,476-67,711,476 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000044.3:c.1960G>A NP_000035.2:p.Glu654Lys
Ensemble ENST00000374690.9:c.1960G>A ENST00000374690.9:p.Glu654Lys
ENST00000396044.8:c.1960G>A ENST00000396044.8:p.Glu654Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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
COSMIC COSM6926571 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-05-04 criteria provided, single submitter not specified germline Detail
Benign 2024-01-23 criteria provided, single submitter Kennedy disease,Androgen resistance syndrome germline Detail
Benign 2024-01-23 criteria provided, single submitter Kennedy disease,Androgen resistance syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 congenital adrenal hyperplasia An androgen receptor gene mutation (E653K) in a family with congenital adrenal h... BeFree 12050225 Detail
<0.001 Reifenstein Syndrome An androgen receptor gene mutation (E653K) in a family with congenital adrenal h... BeFree 12050225 Detail
0.375 Reifenstein Syndrome An androgen receptor gene mutation (E653K) in a family with congenital adrenal h... BeFree 12050225 Detail
0.294 congenital adrenal hyperplasia An androgen receptor gene mutation (E653K) in a family with congenital adrenal h... BeFree 12050225 Detail
0.001 Congenital malformation of genital organs We conclude that AR gene mutations or polymorphisms are not a common factor infl... BeFree 12050225 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) AND not specified ClinVar Detail
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) AND multiple conditions ClinVar Detail
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) AND multiple conditions ClinVar Detail
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to st... DisGeNET Detail
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to st... DisGeNET Detail
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to st... DisGeNET Detail
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to st... DisGeNET Detail
We conclude that AR gene mutations or polymorphisms are not a common factor influencing the degree o... 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
rs200737258 dbSNP
Genome
hg19
Position
chrX:66,931,318-66,931,318
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
4581
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
57452
Allele Counts in All Race (ExAC)
154
Heterozygous Counts in All Race (ExAC)
94
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0026804985030982383
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
58
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