Variant #0000811260 (NC_000004.11:g.123664161_123664162delTT, BBS12(NM_001178007.1):c.1114_1115delTT)
Individual ID |
00383324 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.123664161_123664162delTT |
DNA change (hg38) |
- |
Published as |
p.F372fsX373 (c.1114delTT) |
ISCN |
- |
DB-ID |
BBS12_000121 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Pereiro-2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
0/100 ethnically matched control chromosomes. |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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