chr19:1207093:C> Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,207,092-1,207,092 
hg38 chr19:1,207,093-1,207,093

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.180delC NP_000446.1:p.Tyr60Ter
Ensemble ENST00000326873.12:c.180delC ENST00000326873.12:p.Tyr60Ter
ENST00000585465.3:c.180delC ENST00000585465.3:p.Tyr60Ter
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 COSM27322 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-09-14 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-11-09 criteria provided, multiple submitters, no conflicts Peutz-Jeghers syndrome germline Detail
Pathogenic 2020-01-03 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) AND not provided ClinVar Detail
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) AND Peutz-Jeghers syndrome ClinVar Detail
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) AND Hereditary cancer-predisposing syndrome ClinVar 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
rs1555735008 dbSNP
Genome
hg38
Position
chr19:1,207,093-1,207,093
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser