Bibliome.ai browser hg19
Search
About
Stats
FAQ
PAH c.350del ;(p.T117Kfs*78)
Variant ID: 12-103288515-TG-T
NM_000277.1(
PAH
):c.350del;(p.T117Kfs*78)
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:
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: PAH: 350delC; Thr117fs; rs281865428
PubMed Link:
31589614
Variant Present in the following documents:
pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page