chr17:7578200:C>T Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,578,200-7,578,200 |
hg38 | chr17:7,674,882-7,674,882 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276696.1:c.532G>A | NP_001263625.1:p.Val178Met |
NM_000546.5:c.649G>A | NP_000537.3:p.Val217Met | |
NM_001126112.2:c.649G>A | NP_001119584.1:p.Val217Met |
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 | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... | BeFree | 25894969 | Detail |
<0.001 | Philadelphia chromosome-positive acute lymphoblastic leukemia | One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... | BeFree | 25894969 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.649G>A (p.Val217Met) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.649G>A (p.Val217Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... | DisGeNET | Detail |
One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... | 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
- rs35163653 dbSNP
- Genome
- hg19
- Position
- chr17:7,578,200-7,578,200
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1563367252543941E-4
- Chromosome Counts in All Race (ExAC)
- 120636
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.289399515899069E-6
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