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SCN5A c.614_616del ;(p.Y205_T206delinsS)
Variant ID: 3-38655321-GTGT-G
NM_000335.4(
SCN5A
):c.614_616del;(p.Y205_T206delinsS)
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:
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: 614_616del
PubMed Link:
34539727
Variant Present in the following documents:
Main text
fgene-12-665174.pdf
View BVdb publication page