Full data view for gene ABCC8

Information The variants shown are described using the NM_000352.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 38 c.4608G>A r.spl? p.? Paternal (confirmed) ACMG likely pathogenic (recessive) g.17415244C>T - NM_001287174.1(ABCC8):c.4611G>A - ABCC8_000517 - - - - Germline - - - - - DNA SEQ - - HHF1 P20 in Saint-Martin et al - - F ? Algeria - - - - - 1 Cécile Saint-Martin
?/. - c.4608G>A r.(?) p.(Ala1536=) Unknown - VUS g.17415244C>T - ABCC8(NM_000352.3):c.4608G>A (p.(Ala1536=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=) - ABCC8_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4608G>A r.(?) p.(Ala1536=) Unknown - likely pathogenic g.17415244C>T - ABCC8(NM_000352.3):c.4608G>A (p.(Ala1536=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=) - ABCC8_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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