chr17:7577563:T>C Detail (hg19) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,563-7,577,563 |
hg38 | chr17:7,674,245-7,674,245 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.718A>G | NP_000537.3:p.Ser240Gly |
NM_001126112.2:c.718A>G | NP_001119584.1:p.Ser240Gly | |
NM_001276760.1:c.718A>G | NP_001263689.1:p.Ser240Gly |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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body of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-02-18 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2019-05-28 | criteria provided, single submitter | Squamous cell carcinoma of the head and neck |
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Detail |
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2022-06-18 | criteria provided, single submitter | Li-Fraumeni syndrome 1 |
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Detail |
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2022-06-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs1567549584 dbSNP
- Genome
- hg19
- Position
- chr17:7,577,563-7,577,563
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser