GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) AND Bardet-Biedl syndrome 12

Significance: Pathogenic
ClinVar: RCV000001210

Variant: NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs)

Type: Variant
Allele: NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) 16190
Gene:
Type: Deletion
Location: Chr4: 123664162 - 123664163 - assembly GRCh37
Chr4: 122743007 - 122743008 - assembly GRCh38
References: dbSNP: 587777803
OMIM: 610683.0005

Condition

Disease: Bardet-Biedl syndrome 12

Citation

    In 4 families with Bardet-Biedl syndrome (BBS12; 615989), Stoetzel et al. (2007) found the same 2-bp deletion in the BBS12 gene that resulted in frameshift and premature termination of the protein (Phe372fsTer373). The mutation was found in homozygosity or compound heterozygosity and occurred on 6 alleles.
PMID:17160889