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ADA c.41T>C ;(p.L14P)
Variant ID: 20-43264922-A-G
NM_000022.2(
ADA
):c.41T>C;(p.L14P)
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, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Frontiers In Immunology
Aluri, Jahnavi J; Desai, Mukesh M; Gupta, Maya M; Dalvi, Aparna A; Terance, Antony A; Rosenzweig, Sergio D SD; Stoddard, Jennifer L JL; Niemela, Julie E JE; Tamankar, Vasundhara V; Mhatre, Snehal S; Bargir, Umair U; Kulkarni, Manasi M; Shah, Nitin N; Aggarwal, Amita A; Lashkari, Harsha Prasada HP; Krishna, Vidya V; Govindaraj, Geeta G; Kalra, Manas M; Madkaikar, Manisha M
Publication Date: 2019
Variant appearance in text: ADA: L14P
PubMed Link:
30778343
Variant Present in the following documents:
Main text
fimmu-10-00023.pdf
View BVdb publication page