chr19:1220453:T>C Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,220,452-1,220,452 View the variant detail on this assembly version.
hg38 chr19:1,220,453-1,220,453

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.545T>C NP_000446.1:p.Leu182Pro
Ensemble ENST00000326873.12:c.545T>C ENST00000326873.12:p.Leu182Pro
ENST00000585465.3:c.545T>C ENST00000585465.3:p.Leu182Pro
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs730881974 dbSNP
Genome
hg38
Position
chr19:1,220,453-1,220,453
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser