chr6:29942870:G>T Detail (hg38) (HLA-A)

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

Genome

Assembly	Position
hg19	chr6:29,910,647-29,910,647 View the variant detail on this assembly version.
hg38	chr6:29,942,870-29,942,870

HGVS

HLA-A

Type	Transcript	Protein
RefSeq	NM_002116.7:c.187G>T	NP_002107.3:p.Asp63Tyr
Ensemble	ENST00000376802.2:c.187G>T	ENST00000376802.2:p.Asp63Tyr
	ENST00000376806.9:c.187G>T	ENST00000376806.9:p.Asp63Tyr
	ENST00000376809.10:c.187G>T	ENST00000376809.10:p.Asp63Tyr
	ENST00000396634.5:c.187G>T	ENST00000396634.5:p.Asp63Tyr
	ENST00000638375.2:c.187G>T	ENST00000638375.2:p.Asp63Tyr
	ENST00000706894.1:c.187G>T	ENST00000706894.1:p.Asp63Tyr
	ENST00000706898.1:c.187G>T	ENST00000706898.1:p.Asp63Tyr
	ENST00000706900.1:c.103G>T	ENST00000706900.1:p.Asp35Tyr
	ENST00000706901.1:c.187G>T	ENST00000706901.1:p.Asp63Tyr
	ENST00000706904.1:c.187G>T	ENST00000706904.1:p.Asp63Tyr
	ENST00000706905.1:c.187G>T	ENST00000706905.1:p.Asp63Tyr
	ENST00000714446.1:c.79G>T	ENST00000714446.1:p.Asp27Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

HLA-A

Type	Database	ID	Link
Gene	MIM	142800	OMIM
	HGNC	4931	HGNC
	Ensembl	ENSG00000206503	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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
0.360	hemochromatosis	Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi...	BeFree	11887210	Detail
0.031	hemochromatosis	Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazi...	BeFree	11887210	Detail

Annotation

Annotations

Descrption	Source	Links
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h...	DisGeNET	Detail
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with h...	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: rs199474387 dbSNP
Genome: hg38
Position: chr6:29,942,870-29,942,870
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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