ATM c.1858T>C ;(p.C620R)

Variant ID: 11-108123599-T-C

NM_000051.3(ATM):c.1858T>C;(p.C620R)

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:

Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children.

Frontiers In Pediatrics
Smigoc Schweiger, Darja D; Goricar, Katja K; Hovnik, Tinka T; Mendez, Andrijana A; Bratina, Natasa N; Brecelj, Jernej J; Vidan-Jeras, Blanka B; Battelino, Tadej T; Dolzan, Vita V
Publication Date: 2019

Variant appearance in text: ATD: 1858T>C
PubMed Link: 30915320
Variant Present in the following documents:
  • Main text
  • fped-07-00063.pdf
View BVdb publication page