chr17:7577063:T>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,063-7,577,063
hg38 chr17:7,673,745-7,673,745 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276696.1:c.758A>T NP_001263625.1:p.Lys253Ile
NM_000546.5:c.875A>T NP_000537.3:p.Lys292Ile
NM_001126112.2:c.875A>T NP_001119584.1:p.Lys292Ile
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-09-01 no assertion criteria provided Li-Fraumeni syndrome 1 germline Detail
Uncertain significance 2021-01-05 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.369 Li-Fraumeni syndrome Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutat... BeFree 15993273 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutations in TP53 (Lys292... 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
rs121912663 dbSNP
Genome
hg19
Position
chr17:7,577,063-7,577,063
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser