chr7:152373252:C>G Detail (hg19) (XRCC2)

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Information

Genome

Assembly	Position
hg19	chr7:152,373,252-152,373,252
hg38	chr7:152,676,167-152,676,167 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000698506.1:c.-174G>C

Summary

Links

Type	Database	ID	Link
Gene	MIM	600375	OMIM
	HGNC	12829	HGNC
	Ensembl	ENSG00000196584	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv31536396	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2015-03-03	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Non-small cell lung carcinoma	We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (...	BeFree	21647442	Detail

Annotation

Descrption	Source	Links
NC_000007.14:g.152676167C>G AND not provided	ClinVar	Detail
We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G&gt...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3218384 dbSNP
Genome: hg19
Position: chr7:152,373,252-152,373,252
Variant Type: snv
Reference Allele: C
Alternative Allele: G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs3218384
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1176
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1971
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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