chr19:1221974:A>G Detail (hg19) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,221,974-1,221,974
hg38 chr19:1,221,975-1,221,975 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.889A>G NP_000446.1:p.Arg297Gly
Ensemble ENST00000326873.12:c.889A>G ENST00000326873.12:p.Arg297Gly
ENST00000585465.3:c.889A>G ENST00000585465.3:p.Arg297Gly
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2024-02-13 criteria provided, single submitter Peutz-Jeghers syndrome unknown 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.889A>G (p.Arg297Gly) 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
rs730881978 dbSNP
Genome
hg19
Position
chr19:1,221,974-1,221,974
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser