chr1:146018516:A>G Detail (hg38) (HJV)

Information

Genome

Assembly Position
hg19 chr1:145,416,496-145,416,496 
hg38 chr1:146,018,516-146,018,516

HGVS

Type Transcript Protein
RefSeq NM_001316767.1:c.842T>C NP_001303696.1:p.Ile281Thr
NM_213653.3:c.842T>C NP_998818.1:p.Ile281Thr
NM_145277.4:c.503T>C NP_660320.3:p.Ile168Thr
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 2023-07-07 criteria provided, single submitter hemochromatosis type 2A germline Detail
Pathogenic 2023-12-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 HEMOCHROMATOSIS, TYPE 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_213653.4(HJV):c.842T>C (p.Ile281Thr) AND Hemochromatosis type 2A ClinVar Detail
NM_213653.4(HJV):c.842T>C (p.Ile281Thr) AND not provided ClinVar 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
rs74315326 dbSNP
Genome
hg38
Position
chr1:146,018,516-146,018,516
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser