CFTR c.1351_1352delinsAA ;(p.G451K)

Variant ID: 7-117188836-GG-AA

NM_000492.3(CFTR):c.1351_1352delinsAA;(p.G451K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01

Variant appearance in text: CFTR: Gly451Lys
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page