613843.G.3

Country

Saudi Arabia

HPO Terms

Visual impairment; Congenital stationary cone dysfunction
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003322.6:c.901C>T4

Remarks

2 members of a family

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613843.G.4Saudi ArabiaRetinal dystrophyUnknownYesFamily with unknown number of affected members
613843.G.5Saudi ArabiaRod-cone dystrophyUnknownNoFamily with unknown number of affected members with early-onset retinitis pigmentosa
613843.G.6Saudi ArabiaRetinal dystrophyUnknownNoFamily with unknown number of affected members
613843.G.7Saudi ArabiaRod-cone dystrophyUnknownYesFamily with unknown number of affected members. Early onset retinitis pigmentosa
613843.G.8Saudi ArabiaRod-cone dystrophyUnknownYesFamily with unknown number of affected members. Early onset retinitis pigmentosa
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