rs121912651

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	7	Li-Fraumeni Syndrome (predicted)
(C;T)	7	Li-Fraumeni Syndrome (predicted)

Make rs121912651(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7674221

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs121912651
dbSNP (classic)	rs121912651
ClinGen	rs121912651
ebi	rs121912651
HLI	rs121912651
Exac	rs121912651
Gnomad	rs121912651
Varsome	rs121912651
LitVar	rs121912651
Map	rs121912651
PheGenI	rs121912651
Biobank	rs121912651
1000 genomes	rs121912651
hgdp	rs121912651
ensembl	rs121912651
geneview	rs121912651
scholar	rs121912651
google	rs121912651
pharmgkb	rs121912651
gwascentral	rs121912651
openSNP	rs121912651
23andMe	rs121912651
SNPshot	rs121912651
SNPdbe	rs121912651
MSV3d	rs121912651
GWAS Ctlg	rs121912651

Max Magnitude

7

aka c.742C>T (p.Arg248Trp or R248W)

The TP53 p.R248W variant is a highly recurrent somatic mutation while also reported as a germline variant in both pediatric rhabdomyosarcoma ([PMID 26580448 ]) and gliomas, according to [PMID 29625052 ].

23andMe name: i5048835

OMIM	191170
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912651(G;G) rs121912651(T;T)
Alt	rs121912651(G;G) rs121912651(T;T)
Reference	Rs121912651(C;C)
Significance	Other
Disease	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Small cell lung cancer Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Brainstem glioma Ovarian Serous Cystadenocarcinoma Myelodysplastic syndrome Adenocarcinoma of prostate Neoplasm of breast Oesophageal carcinoma Adenocarcinoma of stomach Multiple myeloma Uterine Carcinosarcoma Neoplasm of brain Squamous cell carcinoma of lung Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm Colorectal Neoplasms Medulloblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Pancreatic adenocarcinoma
Variation	info
Gene	TP53
CLNDBN	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Small cell lung cancer Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Brainstem glioma Ovarian Serous Cystadenocarcinoma Myelodysplastic syndrome Adenocarcinoma of prostate Neoplasm of breast Oesophageal carcinoma Adenocarcinoma of stomach Multiple myeloma Uterine Carcinosarcoma Neoplasm of brain Squamous cell carcinoma of lung Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm Colorectal Neoplasms Medulloblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Pancreatic adenocarcinoma
Reversed	1
HGVS	NC_000017.10:g.7577539G>A; NC_000017.10:g.7577539G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013140.23, RCV000115735.6, RCV000168242.5, RCV000213057.2, RCV000418495.1, RCV000419032.1, RCV000419150.1, RCV000419857.1, RCV000423184.1, RCV000423804.1, RCV000424308.1, RCV000424415.1, RCV000425083.1, RCV000425682.1, RCV000429777.1, RCV000429884.1, RCV000430543.1, RCV000431508.1, RCV000431689.1, RCV000433905.1, RCV000434504.1, RCV000435803.1, RCV000436398.1, RCV000438698.1, RCV000440422.1, RCV000440560.1, RCV000441091.1, RCV000441557.1, RCV000442243.1, RCV000444845.1, RCV000417693.1, RCV000418362.1, RCV000420498.1, RCV000422668.1, RCV000423297.1, RCV000424776.1, RCV000425100.1, RCV000425394.1, RCV000425782.1, RCV000427544.1, RCV000427948.1, RCV000430735.1, RCV000432207.1, RCV000432931.1, RCV000433611.1, RCV000435050.1, RCV000435353.1, RCV000436038.1, RCV000437882.1, RCV000440334.1, RCV000441010.1, RCV000441711.1, RCV000444356.1, RCV000444427.1, RCV000444519.1,