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.




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