chr17:7674208:A>G Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,577,526-7,577,526 View the variant detail on this assembly version. |
hg38 | chr17:7,674,208-7,674,208 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001126117.1:c.278T>C | NP_001119589.1:p.Leu93Pro |
NM_001276699.1:c.278T>C | NP_001263628.1:p.Leu93Pro | |
NM_000546.5:c.755T>C | NP_000537.3:p.Leu252Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2020-08-27 | no assertion criteria provided | Li-Fraumeni syndrome 1 |
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Detail |
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2021-02-13 | criteria provided, single submitter | Li-Fraumeni syndrome |
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Detail |
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2021-11-03 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Li-Fraumeni syndrome 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND Li-Fraumeni syndrome 1 | ClinVar | Detail |
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) AND not provided | 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
- rs121912653 dbSNP
- Genome
- hg38
- Position
- chr17:7,674,208-7,674,208
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser