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NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu) AND Autosomal recessive congenital ichthyosis 4A

Significance: Pathogenic
ClinVar: RCV000002988

Variant: NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu)

Type: Variant
Allele: NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu) 17893
Gene:
Type: single nucleotide variant
Location: Chr2: 215851287 - assembly GRCh37
Chr2: 214986563 - assembly GRCh38
References: dbSNP: 28940268
OMIM: 607800.0001
UniProtKB: Q86UK0#VAR_019599

Condition

Disease: Autosomal recessive congenital ichthyosis 4A

Citation

    In 3 affected sibs from a consanguineous Moroccan family with congenital ichthyosis (ARCI4A; 601277) of the lamellar type, originally reported by Parmentier et al. (1996), Lefevre et al. (2003) identified homozygosity for a 4142G-A transition in the ABCA12 gene. The mutation was predicted to result in a gly1381-to-glu (G1381E) substitution in the nucleotide-binding fold (NBF1) domain. The mutation was not found in 100 North African control chromosomes.
PMID:12915478, PMID:8845852