Unique variants in gene ABCA2

Information The variants shown are described using the NM_001606.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.678+6G>A likely benign - - g.139916337C>T - ABCA2:NM_001606.4:c.678+6G>A, NM_212533.2:c.768+6G>A - ABCA2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.702C>T likely benign r.(=) p.(=) g.139916039G>A - ABCA2:c.702C>T (L234=) - ABCA2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1320G>A likely benign r.(=) p.(=) g.139914893C>T - ABCA2:c.1320G>A (T440=) - ABCA2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1555-8A>G likely benign - - g.139913530T>C - ABCA2:NM_001606.4:c.1555-8A>G, NM_212533.2:c.1645-8A>G - ABCA2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.5134G>A VUS r.(?) p.(Gly1712Ser) g.139906990C>T - ABCA2:NM_001606.4:c.5134G>A, NM_212533.2:c.5224G>A, ABCA2:c.5134G>A (G1712S) - ABCA2_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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