chr1:146018395:G>T Detail (hg38) (HJV)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001316767.1:c.963C>A NP_001303696.1:p.Cys321Ter
NM_213653.3:c.963C>A NP_998818.1:p.Cys321Ter
NM_145277.4:c.624C>A NP_660320.3:p.Cys208Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-10-01 no assertion criteria provided hemochromatosis type 2A germline Detail
Pathogenic 2004-10-01 no assertion criteria provided hemochromatosis type 1 germline Detail
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

DescrptionSourceLinks
NM_213653.4(HJV):c.963C>A (p.Cys321Ter) AND Hemochromatosis type 2A ClinVar Detail
NM_213653.4(HJV):c.963C>A (p.Cys321Ter) AND Hemochromatosis type 1 ClinVar Detail
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
hg38
Position
chr1:146,018,395-146,018,395
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser