BBS7 c.1213G>A ;(p.D405N)

Variant ID: 4-122766676-C-T

NM_176824.2(BBS7):c.1213G>A;(p.D405N)

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:

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific Reports
Tiwari, Amit A; Bahr, Angela A; Bähr, Luzy L; Fleischhauer, Johannes J; Zinkernagel, Martin S MS; Winkler, Niklas N; Barthelmes, Daniel D; Berger, Lieselotte L; Gerth-Kahlert, Christina C; Neidhardt, John J; Berger, Wolfgang W
Publication Date: 2016-06-29

Variant appearance in text: BBS7: Asp405Asn
PubMed Link: 27353947
Variant Present in the following documents:
  • srep28755-s1.pdf
View BVdb publication page