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SCN5A c.1801G>A ;(p.V601I)
Variant ID: 3-38645292-C-T
NM_000335.4(
SCN5A
):c.1801G>A;(p.V601I)
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: 1801G>A
PubMed Link:
37207275
Variant Present in the following documents:
mmc10.xlsx, sheet 1
View BVdb publication page
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Frontiers In Genetics
Mkaouar, Rahma R; Abdallah, Lamia Cherif Ben LCB; Naouali, Chokri C; Lahbib, Saida S; Turki, Zinet Z; Elouej, Sahar S; Bouyacoub, Yosra Y; Somai, Maali M; Mcelreavey, Kenneth K; Bashamboo, Anu A; Abdelhak, Sonia S; Messaoud, Olfa O
Publication Date: 2021
Variant appearance in text: HH1: 1801G>A
PubMed Link:
34539727
Variant Present in the following documents:
Main text
fgene-12-665174.pdf
View BVdb publication page