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RB1 c.558T>G ;(p.N186K)
Variant ID: 13-48923110-T-G
NM_000321.2(
RB1
):c.558T>G;(p.N186K)
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:
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Indian Journal Of Pediatrics
Lashkari, Harsha Prasada HP; Madkaikar, Manisha M; Dalvi, Aparna A; Gupta, Maya M; Bustamante, Jacinta J; Sharma, Madhubala M; Rawat, Amit A; Bhatia, Prateek P; Bhat, Kamalakshi G KG; Rao, Sadashiva S; Kamath, Nutan N; Moideen, Faheem F; Latour, Sylvain S; Winter, Sarah S; Bhavani, Gandham SriLakshmi GS; Girisha, Katta M KM
Publication Date: 2022-03
Variant appearance in text: RB1: 558T>G
PubMed Link:
34826056
Variant Present in the following documents:
12098_2021_Article_3936.pdf
View BVdb publication page