STK11 p.Leu282GlyfsTer6 (p.L282Gfs*6) Detail (hg19) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,221,320-1,221,320
hg38 chr19:1,221,321-1,221,321 

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.842_843insCG NP_000446.1:p.Leu282GlyfsTer6
Ensemble ENST00000326873.12:c.842_843insCG ENST00000326873.12:p.Leu282GlyfsTer6
ENST00000585465.3:c.842_843insCG ENST00000585465.3:p.Leu282GlyfsTer6
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr19:1,221,320-1,221,320
Variant Type
snv
Reference Allele
-
Alternative Allele
CG
Genome browser