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222765.2.2
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Cataract
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Sex
Unknown
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014236.4:c.487C>T
2
Rhizomelic Chondrodysplasia Punctata, Type 2
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Remarks
Relative of 222765.2.1
References
Patel et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
222765.2.1
Saudi Arabia
Cataract
Unknown
Yes
Back to search Result
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