chr19:44058892:C>T Detail (hg19) (XRCC1)

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

Genome

Assembly	Position
hg19	chr19:44,058,892-44,058,892
hg38	chr19:43,554,740-43,554,740 View the variant detail on this assembly version.

HGVS

XRCC1

Type	Transcript	Protein
RefSeq	NM_006297.2:c.227G>A	NP_006288.2:p.Arg76His
Ensemble	ENST00000262887.10:c.320G>A	ENST00000262887.10:p.Arg107His
	ENST00000543982.5:c.227G>A	ENST00000543982.5:p.Arg76His

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	Likely benign
Review star
Show details

Links

XRCC1

Type	Database	ID	Link
Gene	MIM	194360	OMIM
	HGNC	12828	HGNC
	Ensembl	ENSG00000073050	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM130252	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-12-31	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	endometriosis	XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194...	BeFree	22084859	Detail
<0.001	endometriosis	XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194...	BeFree	22084859	Detail
0.008	endometriosis	XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194...	BeFree	22084859	Detail

Annotation

Annotations

Descrption	Source	Links
NM_006297.3(XRCC1):c.320G>A (p.Arg107His) AND not provided	ClinVar	Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an...	DisGeNET	Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an...	DisGeNET	Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an...	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: rs2228487 dbSNP
Genome: hg19
Position: chr19:44,058,892-44,058,892
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8642
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.3142791020597085E-4
Chromosome Counts in All Race (ExAC): 120970
Allele Counts in All Race (ExAC): 61
Heterozygous Counts in All Race (ExAC): 61
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.042572538645945E-4

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