chr14:35761573:C>T Detail (hg19) (PSMA6)

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Information

Genome

Assembly	Position
hg19	chr14:35,761,573-35,761,573
hg38	chr14:35,292,367-35,292,367 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	602855	OMIM
	HGNC	9535	HGNC
	Ensembl	ENSG00000100902	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv50414643	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	asthma	To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460...	BeFree	25375907	Detail

Annotation

Descrption	Source	Links
To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 ...	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: rs2277460 dbSNP
Genome: hg19
Position: chr14:35,761,573-35,761,573
Variant Type: snv
Reference Allele: C
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)): rs2277460
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 653
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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