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CFTR c.898G>A ;(p.A300T)
Variant ID: 7-117180182-G-A
NM_000492.3(
CFTR
):c.898G>A;(p.A300T)
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:
Role of Mitochondrial Mutations in Ocular Aggregopathy.
Cureus
Chakraborty, Munmun M; Rao, Aparna A; Mohanty, Kuldeep K
Publication Date: 2022-07
Variant appearance in text: CFTR: A300T
PubMed Link:
36004037
Variant Present in the following documents:
cureus-0014-00000027129.pdf
View BVdb publication page
Identification of potentially damaging amino acid substitutions leading to human male infertility.
Biology Of Reproduction
Kuzmin, Anastasia A; Jarvi, Keith K; Lo, Kirk K; Spencer, Leia L; Chow, Gary Y C GY; Macleod, Graham G; Wang, Qianwei Q; Varmuza, Susannah S
Publication Date: 2009-08
Variant appearance in text: CFTR: A300T
PubMed Link:
19369647
Variant Present in the following documents:
Main text
View BVdb publication page