chr19:1221994:T>G Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,221,993-1,221,993 View the variant detail on this assembly version.
hg38 chr19:1,221,994-1,221,994

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.908T>G NP_000446.1:p.Ile303Ser
Ensemble ENST00000326873.12:c.908T>G ENST00000326873.12:p.Ile303Ser
ENST00000585465.3:c.908T>G ENST00000585465.3:p.Ile303Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM1744476 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-04-09 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-10-05 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_000455.4(STK11):c.908T>G (p.Ile303Ser) AND not provided ClinVar Detail
NM_000455.4(STK11):c.908T>G (p.Ile303Ser) 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
rs727504171 dbSNP
Genome
hg38
Position
chr19:1,221,994-1,221,994
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser