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SMARCA4 c.2294_2316del ;(p.L765Pfs*51)
Variant ID: 19-11123642-GCTGGTGTCCCTGTACAACAACAA-G
NM_003072.3(
SMARCA4
):c.2294_2316del;(p.L765Pfs*51)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.
Journal Of Cancer
Lu, Bingjian B; Shi, Haiyan H
Publication Date: 2019
Variant appearance in text: SMARCA4: 2293_2315del
PubMed Link:
30662543
Variant Present in the following documents:
Main text
View BVdb publication page
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
The Journal Of Pathology
Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O
Publication Date: 2017-09
Variant appearance in text: SMARCA4: 2293_2315del; Leu765Profs*51
PubMed Link:
28608987
Variant Present in the following documents:
View BVdb publication page