Variant #0000814114 (NC_000004.11:g.123663523C>T, BBS12(NM_001178007.1):c.476C>T)
Individual ID |
00385314 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.123663523C>T |
DNA change (hg38) |
- |
Published as |
[p.E61K] |
ISCN |
- |
DB-ID |
BBS12_000116 See all 4 reported entries |
Variant remarks |
normal 2nd chromosome |
Reference |
PubMed: Imhoff-2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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