chr17:7578530:A>G Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,530-7,578,530
hg38 chr17:7,675,212-7,675,212 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.400T>C NP_000537.3:p.Phe134Leu
NM_001126112.2:c.400T>C NP_001119584.1:p.Phe134Leu
NM_001276760.1:c.400T>C NP_001263689.1:p.Phe134Leu
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 13
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 COSM3522711 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided anal canal not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance Malignant tumor of rectum (disorder) unknown MGS000023
(TMGS000082)
Manabu Muto Kyoto University
not provided stomach, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided anal canal not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-06-13 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.080 Carcinogenesis This study has investigated the impact of three specific dominant-negative p53 m... BeFree 16723121 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.400T>C (p.Phe134Leu) AND Li-Fraumeni syndrome ClinVar Detail
This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L... 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
rs267605077 dbSNP
Genome
hg19
Position
chr17:7,578,530-7,578,530
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser