Full data view for gene ABCA2

Information The variants shown are described using the NM_212533.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.1027C>T r.(?) p.(Gln343*) Both (homozygous) ACMG likely pathogenic (recessive) g.139915474G>A g.137021022G>A - - ABCA2_000001 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 16DG0071 PubMed: Maddirevula 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.5224G>A r.(?) p.(Gly1742Ser) Unknown - VUS g.139906990C>T g.137012538C>T ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S) - ABCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5224G>A r.(?) p.(Gly1742Ser) Unknown - VUS g.139906990C>T g.137012538C>T ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S) - ABCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5224G>A r.(?) p.(Gly1742Ser) Unknown - VUS g.139906990C>T - ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S) - ABCA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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