PKHD1 c.514G>A ;(p.E172K)

Variant ID: 6-51938274-C-T

NM_138694.3(PKHD1):c.514G>A;(p.E172K)

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 CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.

Frontiers In Immunology
Szczawinska-Poplonyk, Aleksandra A; Ploski, Rafal R; Bernatowska, Ewa E; Pac, Malgorzata M
Publication Date: 2020

Variant appearance in text: PKHD1: Glu172Lys
PubMed Link: 32231661
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page