Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
. Another compound heterozygous variant in the ABHD12 gene: M1, a known nonsense variation c.477G > A (p.Trp159Ter)\; and M2, a novel copy number variant with a deletion of approximately 18.10 Kbp in chromosome 20p11.21 (seq[GRCh38]del(20) (p11.21)chr20:g. 25302218_25320318del), covering exons 4-12 of the ABHD12 gene
| Title : A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype - Ma_2025_Mol.Genet.Genomic.Med_13_e70055 |
| Author(s) : Ma M , Ma J , Lian Y , Wu X , Wang W , Rong W , Sheng X |
| Ref : Mol Genet Genomic Med , 13 :e70055 , 2025 |
| Abstract : |
| PubMedSearch : Ma_2025_Mol.Genet.Genomic.Med_13_e70055 |
| PubMedID: 39910854 |
| Gene_locus related to this paper: human-ABHD12 |