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SCN5A c.1048C>G ;(p.H350D)
Variant ID: 3-38648252-G-C
NM_000335.4(
SCN5A
):c.1048C>G;(p.H350D)
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:
Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.
Iscience
Ishikawa, Tomohiko T; Ogawa, Takenori T; Shiihara, Masahiro M; Usubuchi, Hajime H; Omori, Yuko Y; Hirose, Katsuya K; Itoh, Taito T; Yoshida, Takuya T; Nakanome, Ayako A; Okoshi, Akira A; Higashi, Kenjiro K; Ishii, Ryo R; Rokugo, Masahiro M; Wakamori, Shun S; Okamura, Yasunobu Y; Kinoshita, Kengo K; Katori, Yukio Y; Furukawa, Toru T
Publication Date: 2023-05-19
Variant appearance in text: SCN5A: 1048C>G
PubMed Link:
37207275
Variant Present in the following documents:
mmc10.xlsx, sheet 1
View BVdb publication page
Screening for 392 polymorphisms in 141 pharmacogenes.
Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07
Variant appearance in text: SCN5A: H350D
PubMed Link:
24944790
Variant Present in the following documents:
Main text
View BVdb publication page