HR c.1135C>T ;(p.L379=)

Variant ID: 8-21984820-G-A

NM_005144.4(HR):c.1135C>T;(p.L379=)

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:

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Thrombosis And Haemostasis
Radic, Claudia Pamela CP; Rossetti, Liliana Carmen LC; Abelleyro, Miguel Martín MM; Candela, Miguel M; Pérez Bianco, Raúl R; de Tezanos Pinto, Miguel M; Larripa, Irene Beatriz IB; Goodeve, Anne A; De Brasi, Carlos Daniel C
Publication Date: 2013-01

Variant appearance in text: HR: 1135C>T
PubMed Link: 23093250
Variant Present in the following documents:
  • Main text
View BVdb publication page