BBS2 c.1334_1338del ;(p.I445Tfs*27)

Variant ID: 16-56534825-GCACAA-G

NM_031885.3(BBS2):c.1334_1338del;(p.I445Tfs*27)

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:

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

The Indian Journal Of Medical Research
Chandrasekar, Sathya Priya SP; Namboothiri, Sheela S; Sen, Parveen P; Sarangapani, Sripriya S
Publication Date: 2018-02

Variant appearance in text: BBS: 1334_1338del
PubMed Link: 29806606
Variant Present in the following documents:
  • Main text
  • IJMR-147-177.pdf
View BVdb publication page