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.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat51 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat52 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Both (homozygous) - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat53 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat54 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat55 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #1 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat56 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat11 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat12 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat13 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat14 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat30 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_4i c.(?_-37)_(474+1_475-1)del r.0? p.0? Parent #2 - pathogenic g.(16308307_16313410)_(16317328_?)del - deletion ex1-4 - ABCC6_000420 - PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat31 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
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