CFTR c.1579_1581delinsAAC ;(p.E527N)

Variant ID: 7-117199704-GAA-AAC

NM_000492.3(CFTR):c.1579_1581delinsAAC;(p.E527N)

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:

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: E527N
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page