Unknown
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000350.3:c.2294G>A | 3 | |||
NM_000350.3:c.1804C>T | 3 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
248200.G.5 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 22' in the publication | ||
248200.G.6 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 23' in the publication | ||
248200.G.7 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 25' in the publication | ||
248200.G.8 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 27' in the publication | ||
248200.G.9 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 28' in the publication | ||
248200.G.10 | Jordan | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 31' in the publication | ||
248200.G.11 | Jordan | Retinal dystrophy | Unknown | No | Family with unknown number of affected members |