chr17:7676398:GGAA>ACGTTCTT Detail (hg38) (TP53)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:7,579,716-7,579,719 View the variant detail on this assembly version. |
hg38 | chr17:7,676,398-7,676,401 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000546.5:c.77_80delinsAAGAACGT | NP_000537.3:p.Leu26GlnfsTer4 |
NM_001126112.2:c.77_80delinsAAGAACGT | NP_001119584.1:p.Leu26GlnfsTer4 | |
NM_001276760.1:c.77_80delinsAAGAACGT | NP_001263689.1:p.Leu26GlnfsTer4 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.77_80delinsAAGAACGT (p.Leu26fs) AND Li-Fraumeni syndrome | ClinVar | Detail |
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) AND Hereditary cancer-predisposing 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
- rs397516438 dbSNP
- Genome
- hg38
- Position
- chr17:7,676,398-7,676,401
- Variant Type
- snv
- Reference Allele
- GGAA
- Alternative Allele
- ACGTTCTT
Genome browser