DNAH11 c.5434G>A ;(p.V1812M)

Variant ID: 7-21721269-G-A

NM_001277115.1(DNAH11):c.5434G>A;(p.V1812M)

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:

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

Diagnostics (Basel, Switzerland)
De Jesús-Rojas, Wilfredo W; Muñiz-Hernández, José J; Alvarado-Huerta, Francisco F; Meléndez-Montañez, Jesús M JM; Santos-López, Arnaldo J AJ; Mosquera, Ricardo A RA
Publication Date: 2022-05-02

Variant appearance in text: DNAH11: 5434G>A; Val1812Met
PubMed Link: 35626283
Variant Present in the following documents:
  • Main text
  • diagnostics-12-01127.pdf
View BVdb publication page