Full data view for gene ABCC6

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001171.5 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 27i c.3883-46A>G r.(=) p.(=) Unknown - VUS g.16248934T>C g.16155077T>C - - ABCC6_000325 - - - rs57745014 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/- 27i c.3883-46A>G r.(=) p.(=) Unknown - benign g.16248934T>C g.16155077T>C IVS27-46A>G - ABCC6_000325 - PubMed: Le Saux 2000 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no United States - - - - - 1 Tim Hefferon
+/+ 27i c.3883-46A>G r.(=) p.(=) Unknown - pathogenic g.16248934T>C g.16155077T>C IVS27-46A>G - ABCC6_000325 - PubMed: Le Saux 2000 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - - - - 1 Tim Hefferon
-/- 27i c.3883-46A>G r.(=) p.(=) Parent #1 - benign g.16248934T>C g.16155077T>C IVS27-46A>G - ABCC6_000325 - PubMed: Le Saux 2000 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - - - - 1 Tim Hefferon
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