PKD1 c.1351G>A ;(p.A451T)

Variant ID: 16-2167524-C-T

NM_001009944.2(PKD1):c.1351G>A;(p.A451T)

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:

Hypophosphatasia.

Orphanet Journal Of Rare Diseases
Mornet, Etienne E
Publication Date: 2007-10-04

Variant appearance in text: Pc-1: A451T
PubMed Link: 17916236
Variant Present in the following documents:
  • Main text
View BVdb publication page