chr10:123625190:T>C Detail (hg19) (ATE1)

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Information

Genome

Assembly	Position
hg19	chr10:123,625,190-123,625,190
hg38	chr10:121,865,675-121,865,675 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	607103	OMIM
	HGNC	782	HGNC
	Ensembl	ENSG00000107669	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv40917084	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
0.031	breast carcinoma	A variant mapping to 10q26.13, approximately 300 kb telomeric to the established...	BeFree	21263130	Detail
0.230	Malignant neoplasm of breast	A variant mapping to 10q26.13, approximately 300 kb telomeric to the established...	BeFree	21263130	Detail

Annotation

Descrption	Source	Links
A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within t...	DisGeNET	Detail
A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within t...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs10510102 dbSNP
Genome: hg19
Position: chr10:123,625,190-123,625,190
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs10510102
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1606
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2692
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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