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NM_001030311.2:c.999C>A
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NM_001030311.2:c.999C>A
HGVS Expressions
NG_021178.2:g.113276C>A
NM_001030311.2:c.999C>A
NP_001025482.1:p.Cys333Ter
NC_000002.12:g.181548832G>T
Associated Genes
Ceramide Kinase-Like
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
755238456
Clinvar
979002
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608380.G.1
Saudi Arabia
4
Pathogenic
Retinitis Pigmentosa 26
Patel et al, 2018
2 family members
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Contributors
Sayeeda Hana: 10.06.2020
Edit History
Pratibha Nair: 21.11.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 17.06.2020
Sayeeda Hana: 10.06.2020
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