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NM_003560.4:c.2370T>G
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NM_003560.4:c.2370T>G
HGVS Expressions
NG_007094.3:g.107567T>G
NM_003560.4:c.2370T>G
NP_003551.2:p.Tyr790Ter
NC_000022.11:g.38112212A>C
Associated Genes
Phospholipase A2, Group VI
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121908680
Clinvar
6195
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
256600.1
Lebanon
2
Pathogenic
Neurodegeneration with Brain Iron Accumulation 2A
Nair et al. 2018
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Contributors
Pratibha Nair: 21.04.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 21.04.2020
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