Full data view for gene ABCD3

Information The variants shown are described using the NM_002858.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-1072552_*3867750del r.? p.? Unknown - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 22i c.1903-573_*1108del r.903_*1246del p.? Both (homozygous) - pathogenic g.94982035_94983793del g.94516479_94518237del - - ABCD3_000001 - PubMed: Ferdinandusse 2014 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - hepatosplenomegaly - PubMed: Ferdinandusse 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - 04y 0 - - 1 Johan den Dunnen
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