Full data view for gene ABCA12

Information The variants shown are described using the NM_173076.2 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     
+/. 39 c.5848C>T r.(?) p.(Arg1950*) Parent #2 - pathogenic g.215831608G>A g.214966884G>A - - ABCA12_000042 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI4A - PubMed: Akiyama 2005 2-generation family, 1 affected, unaffected carrier parents M no Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 39 c.5848C>T r.(?) p.(Arg1950*) Parent #1 - pathogenic g.215831608G>A g.214966884G>A Arg1950X - ABCA12_000042 - PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
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