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SPTA1 c.6421C>G ;(p.R2141G)
Variant ID: 1-158589121-G-C
NM_003126.2(
SPTA1
):c.6421C>G;(p.R2141G)
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:
Exome sequencing for diagnosis of congenital hemolytic anemia.
Orphanet Journal Of Rare Diseases
Mansour-Hendili, Lamisse L; Aissat, Abdelrazak A; Badaoui, Bouchra B; Sakka, Mehdi M; Gameiro, Christine C; Ortonne, Valérie V; Wagner-Ballon, Orianne O; Pissard, Serge S; Picard, Véronique V; Ghazal, Khaldoun K; Bahuau, Michel M; Guitton, Corinne C; Mansour, Ziad Z; Duplan, Mylène M; Petit, Arnaud A; Costedoat-Chalumeau, Nathalie N; Michel, Marc M; Bartolucci, Pablo P; Moutereau, Stéphane S; Funalot, Benoît B; Galactéros, Frédéric F
Publication Date: 2020-07-08
Variant appearance in text: rs41273519
PubMed Link:
32641076
Variant Present in the following documents:
Main text
View BVdb publication page