chr19:1207082:G>T Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,207,081-1,207,081 View the variant detail on this assembly version.
hg38 chr19:1,207,082-1,207,082

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.169G>T NP_000446.1:p.Glu57Ter
Ensemble ENST00000326873.12:c.169G>T ENST00000326873.12:p.Glu57Ter
ENST00000585465.3:c.169G>T ENST00000585465.3:p.Glu57Ter
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 COSM29464 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-05-26 criteria provided, single submitter Peutz-Jeghers syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.664 Peutz-Jeghers syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000455.5(STK11):c.169G>T (p.Glu57Ter) AND Peutz-Jeghers syndrome 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
rs137854584 dbSNP
Genome
hg38
Position
chr19:1,207,082-1,207,082
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser