PC c.1969A>T ;(p.N657Y)

Variant ID: 11-66619274-T-A

NM_001040716.1(PC):c.1969A>T;(p.N657Y)

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:

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

Plos One
Proverbio, Maria Carla MC; Mangano, Eleonora E; Gessi, Alessandra A; Bordoni, Roberta R; Spinelli, Roberta R; Asselta, Rosanna R; Valin, Paola Sogno PS; Di Candia, Stefania S; Zamproni, Ilaria I; Diceglie, Cecilia C; Mora, Stefano S; Caruso-Nicoletti, Manuela M; Salvatoni, Alessandro A; De Bellis, Gianluca G; Battaglia, Cristina C
Publication Date: 2013

Variant appearance in text: PC: N657Y
PubMed Link: 23869231
Variant Present in the following documents:
  • Main text
  • pone.0068740.pdf
View BVdb publication page