chr22:41663764:G>A Detail (hg38) (XRCC6)

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

Genome

Assembly	Position
hg19	chr22:42,059,768-42,059,768 View the variant detail on this assembly version.
hg38	chr22:41,663,764-41,663,764

HGVS

XRCC6

Type	Transcript	Protein
RefSeq	NM_001288976.1:c.1779G>A	NP_001275905.1:p.Gly593=
	NM_001469.4:c.1779G>A	NP_001460.1:p.Gly593=
	NM_001288977.1:c.1656G>A	NP_001275906.1:p.Gly552=
	NM_001288978.1:c.1629G>A	NP_001275907.1:p.Gly543=
Ensemble	ENST00000359308.8:c.1779G>A	ENST00000359308.8:p.Gly593=
	ENST00000360079.8:c.1779G>A	ENST00000360079.8:p.Gly593=
	ENST00000402580.7:c.1656G>A	ENST00000402580.7:p.Gly552=
	ENST00000405506.2:c.1629G>A	ENST00000405506.2:p.Gly543=
	ENST00000405878.5:c.1779G>A	ENST00000405878.5:p.Gly593=
	ENST00000428575.6:c.1629G>A	ENST00000428575.6:p.Gly543=

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
Review star	[No Data.]
Show details

Links

XRCC6

Type	Database	ID	Link
Gene	MIM	152690	OMIM
	HGNC	4055	HGNC
	Ensembl	ENSG00000196419	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv412195560	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.015	Malignant neoplasm of breast	This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ...	BeFree	23098447	Detail
0.003	breast carcinoma	This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ...	BeFree	23098447	Detail

Annotation

Annotations

Descrption	Source	Links
This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g...	DisGeNET	Detail
This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g...	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: -
Genome: hg38
Position: chr22:41,663,764-41,663,764
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 7
East Asian Heterozygous Counts (ExAC): 6
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 8.111239860950173E-4
Chromosome Counts in All Race (ExAC): 120816
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.7939345782015626E-5

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