chr17:7675070:C>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,388-7,578,388 View the variant detail on this assembly version.
hg38 chr17:7,675,070-7,675,070

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.542G>T NP_000537.3:p.Arg181Leu
NM_001126112.2:c.542G>T NP_001119584.1:p.Arg181Leu
NM_001276760.1:c.542G>T NP_001263689.1:p.Arg181Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6474269 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1994-03-02 no assertion criteria provided Glioma susceptibility 1 germline Detail
Uncertain significance 2023-04-27 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
0.120 Glioma susceptibility 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.542G>T (p.Arg181Leu) AND Glioma susceptibility 1 ClinVar Detail
NM_000546.6(TP53):c.542G>T (p.Arg181Leu) AND Li-Fraumeni syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs397514495 dbSNP
Genome
hg38
Position
chr17:7,675,070-7,675,070
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser