chr1:15844707:G>C Detail (hg19) (CASP9)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:15,844,707-15,844,707 |
hg38 | chr1:15,518,212-15,518,212 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001278054.1:c.316C>G | NP_001264983.1:p.Leu106Val |
NM_032996.3:c.67C>G | NP_127463.2:p.Leu23Val | |
NR_102732.1:c.316C>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2018-07-18 | criteria provided, single submitter | not provided |
![]() |
Detail |
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-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001229.5(CASP9):c.316C>G (p.Leu106Val) AND not provided | ClinVar | Detail |
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | DisGeNET | Detail |
Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->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
- hg19
- Position
- chr1:15,844,707-15,844,707
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 209
- Heterozygous Counts in All Race (ExAC)
- 201
- Homozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 0.0017214113926135803
Genome browser