Variant: rs128624217 

    present in Gene: BCAP31;ABCD1
    present in Chromosome: X
    Position on Chromosome: 153725786
    Alleles of this Variant: T/G

rs128624217 in BCAP31;ABCD1 gene and Adrenoleukodystrophy PMID 11248239 2001 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

PMID 10737980 2000 Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

PMID 7581394 1995 Mutational analysis of patients with X-linked adrenoleukodystrophy.

PMID 7849723 1994 Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

PMID 10480364 1999 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.

PMID 23651979 2013 Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

PMID 15643618 2005 Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

PMID 11438993 2001 Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

PMID 8566952 1996 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

PMID 7825602 1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

PMID 21889498 2011 Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

PMID 7904210 1993 Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

PMID 26686776 2016 Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

PMID 10551832 1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PMID 21700483 2012 X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

PMID 22071894 2012 Clinical utility gene card for: adrenoleukodystrophy.

PMID 10369742 1999 Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

PMID 11810273 2001 Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

PMID 7717396 1995 Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

PMID 8040304 1994 Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.