BBS7 c.1230+307_1230+310del

Variant ID: 4-122766349-ACCCC-A

NM_176824.2(BBS7):c.1230+307_1230+310del

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:

Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2022-01

Variant appearance in text: BBS7: 1230+307_1230+310del
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page


Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Molecular Genetics And Genomics : Mgg
Kiener, Sarah S; Rostaher, Ana A; Rüfenacht, Silvia S; Jagannathan, Vidhya V; Sundberg, John P JP; Welle, Monika M; Leeb, Tosso T
Publication Date: 2021-12-08

Variant appearance in text: BBS7: 1230+307_1230+310del
PubMed Link: 34878611
Variant Present in the following documents:
  • 438_2021_1842_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page