chr2:190430294:C>A Detail (hg19) (SLC40A1)

Information

Genome

Assembly Position
hg19 chr2:190,430,294-190,430,294
hg38 chr2:189,565,568-189,565,568 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_014585.5:c.546G>T NP_055400.1:p.Gln182His
Ensemble ENST00000261024.7:c.546G>T ENST00000261024.7:p.Gln182His
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 604653 OMIM
HGNC 10909 HGNC
Ensembl ENSG00000138449 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6480174 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-09-01 no assertion criteria provided hemochromatosis type 4 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 HEMOCHROMATOSIS, TYPE 4 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_014585.6(SLC40A1):c.546G>T (p.Gln182His) AND Hemochromatosis type 4 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
rs104893670 dbSNP
Genome
hg19
Position
chr2:190,430,294-190,430,294
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser