Bibliome.ai browser hg19
Search
About
Stats
FAQ
PCNT c.1370A>G ;(p.E457G)
Variant ID: 21-47771368-A-G
NM_006031.5(
PCNT
):c.1370A>G;(p.E457G)
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:
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Frontiers In Pediatrics
Dehghan Tezerjani, Masoud M; Vahidi Mehrjardi, Mohammad Yahya MY; Hozhabri, Hossein H; Rahmanian, Masoud M
Publication Date: 2020
Variant appearance in text: PCNT: 1370A>G; Glu457Gly
PubMed Link:
32671003
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page