chr12:52651585:G>T Detail (hg38) (KRT2)

Information

Genome

Assembly Position
hg19 chr12:53,045,369-53,045,369 View the variant detail on this assembly version.
hg38 chr12:52,651,585-52,651,585

HGVS

Type Transcript Protein
RefSeq NM_000423.2:c.558C>A NP_000414.2:p.Asn186Lys
Ensemble ENST00000309680.4:c.558C>A ENST00000309680.4:p.Asn186Lys
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 2001-08-01 no assertion criteria provided Ichthyosis bullosa of Siemens germline Detail
Pathogenic 2020-02-18 criteria provided, single submitter not provided germline 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.558C>A (p.Asn186Lys) AND Ichthyosis bullosa of Siemens ClinVar Detail
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) 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
rs137852632 dbSNP
Genome
hg38
Position
chr12:52,651,585-52,651,585
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser