chr1:15518212:G>A Detail (hg38) (CASP9)

Information

Genome

Assembly Position
hg19 chr1:15,844,707-15,844,707 View the variant detail on this assembly version.
hg38 chr1:15,518,212-15,518,212

HGVS

Type Transcript Protein
RefSeq NM_001229.4:c.316C>T NP_001220.2:p.Leu106Phe
NM_001278054.1:c.316C>T NP_001264983.1:p.Leu106Phe
NM_032996.3:c.67C>T NP_127463.2:p.Leu23Phe
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 602234 OMIM
HGNC 1511 HGNC
Ensembl ENSG00000132906 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
0.003 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... BeFree 16109524 Detail
<0.001 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;... BeFree 16109524 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... DisGeNET Detail
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... 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
rs2308938 dbSNP
Genome
hg38
Position
chr1:15,518,212-15,518,212
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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