chr17:7674252:C>A Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,570-7,577,570 View the variant detail on this assembly version. |
hg38 | chr17:7,674,252-7,674,252 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.711G>T | NP_000537.3:p.Met237Ile |
NM_001126112.2:c.711G>T | NP_001119584.1:p.Met237Ile | |
NM_001276760.1:c.711G>T | NP_001263689.1:p.Met237Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2020-01-14 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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no assertion criteria provided | Malignant tumor of urinary bladder |
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Detail | |
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2022-08-30 | criteria provided, single submitter | Adrenocortical carcinoma, hereditary |
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Detail |
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2023-12-11 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... | CIViC Evidence | Detail |
The M237I mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. M237I/- c... | CIViC Evidence | Detail |
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Neoplasm of ovary | ClinVar | Detail |
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Malignant tumor of urinary bladder | ClinVar | Detail |
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Adrenocortical carcinoma, hereditary | ClinVar | Detail |
NM_000546.6(TP53):c.711G>T (p.Met237Ile) AND Li-Fraumeni syndrome | ClinVar | Detail |
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
- rs587782664 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,252-7,674,252
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- M237I
- Transcript 1 (CIViC Variant)
- ENST00000269305.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1066
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