All variants in the ABCA12 gene

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 47 c.7093G>A r.(?) p.(Asp2365Asn) - pathogenic g.215813331C>T g.214948607C>T - - ABCA12_000006 - PubMed: Kelsell 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
-?/. - c.7093G>A r.(?) p.(Asp2365Asn) - likely benign g.215813331C>T g.214948607C>T - - ABCA12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.7093G>A r.(?) p.(Asp2365Asn) - likely benign g.215813331C>T g.214948607C>T - - ABCA12_000006 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs726070 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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