chrX:67545316:T>A Detail (hg38) (AR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chrX:66,765,158-66,765,158 View the variant detail on this assembly version.
hg38	chrX:67,545,316-67,545,316

HGVS

AR

Type	Transcript	Protein
RefSeq	NM_000044.3:c.170T>A	NP_000035.2:p.Leu57Gln
	NM_001348061.1:c.170T>A	NP_001334990.1:p.Leu57Gln
Ensemble	ENST00000374690.9:c.170T>A	ENST00000374690.9:p.Leu57Gln
	ENST00000396044.8:c.170T>A	ENST00000396044.8:p.Leu57Gln
	ENST00000504326.5:c.170T>A	ENST00000504326.5:p.Leu57Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

Links

AR

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	tgv66648275	TogoVar
	COSMIC	COSM301687	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-06-21	criteria provided, single submitter	not provided	germline unknown	Detail
Likely benign	2024-01-31	criteria provided, single submitter	Androgen resistance syndrome,Kennedy disease	germline	Detail
Likely benign	2024-01-31	criteria provided, single submitter	Androgen resistance syndrome,Kennedy disease	germline	Detail
Benign	2022-01-01	criteria provided, single submitter	ovarian cancer	germline	Detail
Likely benign	2023-06-14	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2021-08-10	criteria provided, single submitter	AR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND not provided	ClinVar	Detail
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND multiple conditions	ClinVar	Detail
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND multiple conditions	ClinVar	Detail
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND Ovarian cancer	ClinVar	Detail
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND not specified	ClinVar	Detail
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND AR-related disorder	ClinVar	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: rs78686797 dbSNP
Genome: hg38
Position: chrX:67,545,316-67,545,316
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1058
Mean of sample read depth (HGVD): 42.44
Standard deviation of sample read depth (HGVD): 22.12
Number of reference allele (HGVD): 1129
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 8.849557522123894E-4
Gene Symbol (HGVD): AR

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