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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
?/. 19 c.2542delG r.(?) p.? Unknown - VUS g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs67867306 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2542delG r.(?) p.(fs*) Unknown - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Uitto 2001 - - Germline - - - - - DNA BESS - - ? - PubMed: Uitto 2001 - - - - - - - - - 1 Tim Hefferon
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Both (homozygous) - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat1 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Both (homozygous) - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat2 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Both (homozygous) - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat3 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Both (homozygous) - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat4 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Both (homozygous) - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat5 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat6 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat7 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat8 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat9 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat10 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat15 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat16 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat17 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat18 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat19 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat20 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat21 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat22 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat23 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat24 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat25 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat26 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat27 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat28 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2542delG r.(?) p.(Val848Cysfs*83) Parent #1 - pathogenic g.16271357delC g.16177500delC - - ABCC6_000101 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PXE 28186352-Pat29 PubMed: Iwanaga 2017, Journal: Iwanaga 2017 - M - Japan - - - - - 1 Johan den Dunnen
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