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CFTR c.712G>C ;(p.A238P)
Variant ID: 7-117175434-G-C
NM_000492.3(
CFTR
):c.712G>C;(p.A238P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetics of Male Infertility - Present and Future: A Narrative Review.
Journal Of Human Reproductive Sciences
Sudhakar, Digumarthi V S DVS; Shah, Rupin R; Gajbhiye, Rahul K RK
Publication Date: 2021
Variant appearance in text: CFTR: A238P
PubMed Link:
34759610
Variant Present in the following documents:
JHRS-14-217.pdf
View BVdb publication page
Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.
The Indian Journal Of Medical Research
Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R
Publication Date: 2020-12
Variant appearance in text: CFTR: A238P
PubMed Link:
34145097
Variant Present in the following documents:
Main text
IJMR-152-575.pdf
View BVdb publication page