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NM_000288.4:c.875T>A
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NM_000288.4:c.875T>A
HGVS Expressions
NG_008462.1:g.80634T>A
NM_000288.4:c.875T>A
NP_000279.1:p.Leu292Ter
Associated Genes
Peroxisome Biogenesis Factor 7
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Genomic Location
chr6:136898213
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1805137
Clinvar
7780
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
215100.1
Lebanon
2
Pathogenic
Rhizomelic Chondrodysplasia Punctata, Type 1
Nair et al. 2018
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Contributors
Pratibha Nair: 21.04.2020
Edit History
Pratibha Nair: 21.04.2020
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Algeria
Bahrain
Comoros
Country not specified
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Yemen
Arab Countries with reported incidence
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