| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
| Venter snp
|
| Source
|
plos
|
| Gene
|
BBS4
|
| allele
|
C
|
| frequency
|
0.225
|
| sift
|
TOLERATED
|
| HuRef
|
1103645651642
|
| Disease Association
|
Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4) (MIM:209900). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.
|
[PMID 12016587] BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
| GET Evidence
|
| BBS4-I354T
|
| aa_change
|
Ile354Thr
|
| aa_change_short
|
I354T
|
| impact
|
not reviewed
|
| qualified_impact
|
Insufficiently evaluated not reviewed
|
| overall_frequency
|
0.529002
|
| summary
|
|
