CP c.1340G>T ;(p.G447V)

Variant ID: 3-148919897-C-A

NM_000096.3(CP):c.1340G>T;(p.G447V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Birth Defects Research
Kause, Franziska F; Zhang, Rong R; Ludwig, Michael M; Schmiedeke, Eberhard E; Rissmann, Anke A; Thiele, Holger H; Altmueller, Janine J; Herms, Stefan S; Hilger, Alina C AC; Hildebrandt, Friedhelm F; Reutter, Heiko H
Publication Date: 2019-06-01

Variant appearance in text: CP: 1340G>T; G447V
PubMed Link: 30887706
Variant Present in the following documents:
  • Main text
View BVdb publication page