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     
-?/. - c.*123097G>T r.(=) p.(=) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*123097G>T r.(=) p.(=) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*123097G>T r.(=) p.(=) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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