chr1:145415419:T>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	chr1:145,415,419-145,415,419
hg38	chr1:146,019,593-146,019,593

HGVS

HJV

Type	Transcript	Protein
RefSeq	NM_213652.3:c.-21-894T>C
	NM_001316767.1:c.238T>C	NP_001303696.1:p.Cys80Arg
	NM_213653.3:c.238T>C	NP_998818.1:p.Cys80Arg
	NM_202004.3:c.-22+104T>C
	NM_145277.4:c.-102T>C
Ensemble	ENST00000636675.1:c.-22+104T>C
	ENST00000475797.1:c.-21-894T>C
	ENST00000336751.11:c.238T>C	ENST00000336751.11:p.Cys80Arg
	ENST00000497365.5:c.-22+104T>C
	ENST00000357836.5:c.-102T>C
	ENST00000634927.1:c.134+104T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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	COSM6527752	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-10-01	no assertion criteria provided	hemochromatosis type 2A	germline	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND Hemochromatosis type 2A	ClinVar	Detail
NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND not provided	ClinVar	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: rs28940586 dbSNP
Genome: hg19
Position: chr1:145,415,419-145,415,419
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8458
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117614
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.502389171357152E-6

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