chr19:1219345:C>T Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,219,344-1,219,344 View the variant detail on this assembly version.
hg38 chr19:1,219,345-1,219,345

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.396C>T NP_000446.1:p.Cys132=
Ensemble ENST00000326873.12:c.396C>T ENST00000326873.12:p.Cys132=
ENST00000585465.3:c.396C>T ENST00000585465.3:p.Cys132=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv60746368 TogoVar
COSMIC COSM1390421 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2020-07-02 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2023-12-19 criteria provided, multiple submitters, no conflicts Peutz-Jeghers syndrome germline Detail
Likely benign 2019-08-29 criteria provided, multiple submitters, no conflicts not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000455.5(STK11):c.396C>T (p.Cys132=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000455.5(STK11):c.396C>T (p.Cys132=) AND Peutz-Jeghers syndrome ClinVar Detail
NM_000455.5(STK11):c.396C>T (p.Cys132=) AND not specified 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
rs730881969 dbSNP
Genome
hg38
Position
chr19:1,219,345-1,219,345
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs730881969
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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