STK11 p.Ile161MetfsTer125 (p.I161Mfs*125) Detail (hg19) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,220,390-1,220,393
hg38 chr19:1,220,391-1,220,394 

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.483_486delTGAC NP_000446.1:p.Ile161MetfsTer125
Ensemble ENST00000326873.12:c.483_486delTGAC ENST00000326873.12:p.Ile161MetfsTer125
ENST00000585465.3:c.483_486delTGAC ENST00000585465.3:p.Ile161MetfsTer125
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 MGS000042
(TMGS000093) 		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
chr19:1,220,390-1,220,393
Variant Type
snv
Reference Allele
TGAC
Alternative Allele
-
Genome browser