FH c.116_123del ;(p.P39Rfs*14)

Variant ID: 1-241682900-CCGCGTTCG-C

NM_000143.3(FH):c.116_123del;(p.P39Rfs*14)

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:

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

European Journal Of Human Genetics : Ejhg
Tümer, Zeynep Z; Bach-Holm, Daniella D
Publication Date: 2009-12

Variant appearance in text: FH: 116_123del
PubMed Link: 19513095
Variant Present in the following documents:
  • Main text
View BVdb publication page