chr12:52646783:C>T Detail (hg38) (KRT2)

Information

Genome

Assembly Position
hg19 chr12:53,040,567-53,040,567 View the variant detail on this assembly version.
hg38 chr12:52,646,783-52,646,783

HGVS

Type Transcript Protein
RefSeq NM_000423.2:c.1426G>A NP_000414.2:p.Glu476Lys
Ensemble ENST00000309680.4:c.1426G>A ENST00000309680.4:p.Glu476Lys
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 600194 OMIM
HGNC 6439 HGNC
Ensembl ENSG00000172867 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 1998-11-01 no assertion criteria provided Ichthyosis bullosa of Siemens germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.484 Ichthyosis bullosa of Siemens NA CLINVAR Detail
0.484 Ichthyosis bullosa of Siemens Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 dom... UNIPROT 9804344 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) AND Ichthyosis bullosa of Siemens ClinVar Detail
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) AND not provided ClinVar Detail
NA DisGeNET Detail
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and... 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
rs56829062 dbSNP
Genome
hg38
Position
chr12:52,646,783-52,646,783
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser