chr17:7577526:A>G Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,526-7,577,526
hg38 chr17:7,674,208-7,674,208 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.755T>C NP_001119585.1:p.Leu252Pro
NM_001276695.1:c.755T>C NP_001263624.1:p.Leu252Pro
NM_001126116.1:c.359T>C NP_001119588.1:p.Leu120Pro
Summary

MGeND

Clinical significance not provided
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM4735392 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-08-27 no assertion criteria provided Li-Fraumeni syndrome 1 germline Detail
Uncertain significance 2021-02-13 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic 2021-11-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
hg19
Position
chr17:7,577,526-7,577,526
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser