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CFTR c.1645_1646delinsGA ;(p.S549D)
Variant ID: 7-117227853-AG-GA
NM_000492.3(
CFTR
):c.1645_1646delinsGA;(p.S549D)
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:
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Bmc Medical Genetics
Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC
Publication Date: 2020-11-02
Variant appearance in text: CFTR: Ser549Asp
PubMed Link:
33138774
Variant Present in the following documents:
Main text
12881_2020_Article_1153.pdf
View BVdb publication page