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.




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
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