Variant #0000824927 (NC_000007.13:g.33376235G>A, NC_000007.13(NM_198428.2):c.1198+1G>A (BBS9))
Individual ID |
00392777 |
Chromosome |
7 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33376235G>A |
DNA change (hg38) |
g.33336623G>A |
Published as |
BBS9 c.1198 + 1G > A |
ISCN |
- |
DB-ID |
BBS9_000176 See all 2 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Meng 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
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 |
Anna Tracewska |
Date created |
2021-11-24 15:01:28 +01:00 (CET) |
Date last edited |
2021-11-24 15:01:37 +01:00 (CET) |

Variant on transcripts
Screenings
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