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SMARCA4 c.3698T>G ;(p.M1233R)
Variant ID: 19-11144117-T-G
NM_003072.3(
SMARCA4
):c.3698T>G;(p.M1233R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic Analysis of Korean Patient With Microcephaly.
Frontiers In Genetics
Lee, Jiwon J; Park, Jong Eun JE; Lee, Chung C; Kim, Ah Reum AR; Kim, Byung Joon BJ; Park, Woong-Yang WY; Ki, Chang-Seok CS; Lee, Jeehun J
Publication Date: 2020
Variant appearance in text: SMARCA4: 3698T>G; Met1233Arg
PubMed Link:
33584783
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page