chr12:53040532:C>A Detail (hg19) (KRT2)

Information

Genome

Assembly Position
hg19 chr12:53,040,532-53,040,532
hg38 chr12:52,646,748-52,646,748 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000423.2:c.1461G>T NP_000414.2:p.Glu487Asp
Ensemble ENST00000309680.4:c.1461G>T ENST00000309680.4:p.Glu487Asp
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 1994-08-01 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
Annotation

Annotations

DescrptionSourceLinks
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) AND Ichthyosis bullosa of Siemens ClinVar Detail
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) 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
rs137852628 dbSNP
Genome
hg19
Position
chr12:53,040,532-53,040,532
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser