chr5:82372665:G>T Detail (hg19) (TMEM167A)

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Information

Genome

Assembly	Position
hg19	chr5:82,372,665-82,372,665
hg38	chr5:83,076,846-83,076,846 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_174909.4:c.3+475C>A
Ensemble	ENST00000502346.2:c.3+475C>A

Summary

Links

Type	Database	ID	Link
Gene	MIM	620000	OMIM
	HGNC	28330	HGNC
	Ensembl	ENSG00000174695	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv21723806	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
<0.001	Lip and oral cavity carcinoma	Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC...	BeFree	18410587	Detail
<0.001	Malignant neoplasm of mouth	Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC...	BeFree	18410587	Detail

Annotation

Descrption	Source	Links
Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs...	DisGeNET	Detail
Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2075685 dbSNP
Genome: hg19
Position: chr5:82,372,665-82,372,665
Variant Type: snv
Reference Allele: G
Alternative Allele: T
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)): rs2075685
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2384
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 3995
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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