chr1:145416617:G>C Detail (hg19) (HJV)

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

Genome

Assembly	Position
hg19	chr1:145,416,617-145,416,617
hg38	chr1:146,018,395-146,018,395

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_213652.3:c.284G>C	NP_998817.1:p.Cys95Ser
	NM_001316767.1:c.962G>C	NP_001303696.1:p.Cys321Ser
	NM_213653.3:c.962G>C	NP_998818.1:p.Cys321Ser
	NM_202004.3:c.284G>C	NP_973733.1:p.Cys95Ser
	NM_145277.4:c.623G>C	NP_660320.3:p.Cys208Ser
Ensemble	ENST00000475797.1:c.284G>C	ENST00000475797.1:p.Cys95Ser
	ENST00000336751.11:c.962G>C	ENST00000336751.11:p.Cys321Ser
	ENST00000636675.1:c.284G>C	ENST00000636675.1:p.Cys95Ser
	ENST00000497365.5:c.284G>C	ENST00000497365.5:p.Cys95Ser
	ENST00000357836.5:c.623G>C	ENST00000357836.5:p.Cys208Ser

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

HJV

Type	Database	ID	Link
Gene	MIM	608374	OMIM
	HGNC	4887	HGNC
	Ensembl	ENSG00000168509	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
0.320	HEMOCHROMATOSIS, TYPE 2A	NA	CLINVAR		Detail
0.121	Hereditary hemochromatosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	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: rs121434374 dbSNP
Genome: hg19
Position: chr1:145,416,617-145,416,617
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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