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.

163 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Unknown - pathogenic g.16256935G>A g.16163078G>A R1141X - ABCC6_000142 not on 100 controls PubMed: Bergen 2000 - - Germline yes - - - - DNA SEQ - - PXE - PubMed: Bergen 2000 - - no - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000, OMIM:var0001 - - no - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000, OMIM:var0001 - - no - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Miksch 2005 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Miksch 2005 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Miksch 2005 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Bergen 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Pfendner 2007 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA BESS - - PXE - PubMed: Pfendner 2007 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Miksch 2005 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Struk 2000 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Meloni 2001 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Bergen 2000 - - Germline - - - - - DNA DHPLC, SEQ - - PXE - PubMed: Pfendner 2007 - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
?/? 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - VUS g.16256935G>A g.16163078G>A - - ABCC6_000142 - - - - Germline - - - - - DNA SEQ - - PXE - - - - - - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no United Kingdom (Great Britain) - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 11-generation family, 4 affecteds, numerous unaffected carriers - yes Italy - - - - - 4 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 11-generation family, 4 affecteds, numerous unaffected carriers - yes Italy - - - - - 4 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000, OMIM:var0001 - - no - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000, OMIM:var0001 - - no - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #1 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - - - - 1 Tim Hefferon
+/+ 24 c.3421C>T r.(?) p.(Arg1141*) Parent #2 - pathogenic g.16256935G>A g.16163078G>A - - ABCC6_000142 - PubMed: Le Saux 2000, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - PXE - PubMed: Le Saux 2000 - - no - - - - - - 1 Tim Hefferon
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