chr19:1219352:G>C Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,219,351-1,219,351 View the variant detail on this assembly version.
hg38 chr19:1,219,352-1,219,352

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.403G>C NP_000446.1:p.Gly135Arg
Ensemble ENST00000326873.12:c.403G>C ENST00000326873.12:p.Gly135Arg
ENST00000585465.3:c.403G>C ENST00000585465.3:p.Gly135Arg
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 602216 OMIM
HGNC 11389 HGNC
Ensembl ENSG00000118046 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM20942 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-04-01 no assertion criteria provided Melanoma, cutaneous malignant, susceptibility to, 1 somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 MELANOMA, CUTANEOUS MALIGNANT, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000455.5(STK11):c.403G>C (p.Gly135Arg) AND Melanoma, cutaneous malignant, susceptibility to, 1 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
rs137853081 dbSNP
Genome
hg38
Position
chr19:1,219,352-1,219,352
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser