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.




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