Full data view for gene C2orf71

NOTE: gene symbol was recently changed from C2orf71 to PCARE. This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001029883.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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VIP     

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Panel size     

Owner     
+/. 1 c.1525del r.(?) p.(Thr509Leufs*32) Parent #1 - pathogenic g.29295608del g.29072742del - - C2orf71_000006 - - - - Germline - - - 0 - DNA SEQ - - RP - - - - - - - - 0 - - 1 Leen Abu Safieh
+/. 1 c.1525del r.(?) p.(Thr509Leufs*32) Parent #2 - pathogenic g.29295608del g.29072742del - - C2orf71_000006 - - - - Germline - - - 0 - DNA SEQ - - RP - - - - - - - - 0 - - 1 Leen Abu Safieh
-/. 1 c.2600C>T r.(?) p.(Pro867Leu) Parent #1 - benign g.29294528G>A g.29071662G>A - - C2orf71_000006 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
-?/. 1 c.2600C>T r.(?) p.(Pro867Leu) Paternal (inferred) - likely benign g.29294528G>A g.29071662G>A - - C2orf71_000006 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - 0 - DNA SEQ - - RP - - - - ? - ? - 0 - - 1 Johan den Dunnen
-?/. 1 c.2600C>T r.(?) p.(Pro867Leu) Maternal (inferred) - likely benign g.29294528G>A g.29071662G>A - - C2orf71_000006 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - 0 - DNA SEQ - - RP - - - - ? - ? - 0 - - 1 Johan den Dunnen
-?/. 1 c.2600C>T r.(?) p.(Pro867Leu) Parent #1 - likely benign g.29294528G>A g.29071662G>A - - C2orf71_000006 - PubMed: Collin 2010 - - Germline - 1/180 chromosomes - 0 - DNA SEQ - - Healthy/Control - - - - no - ? - 0 - - 1 Johan den Dunnen
-?/. - c.2600C>T r.(?) p.(Pro867Leu) Unknown - likely benign g.29294528G>A g.29071662G>A C2orf71(NM_001029883.2):c.2600C>T (p.P867L) - C2orf71_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2600C>T r.(?) p.(Pro867Leu) Unknown - likely benign g.29294528G>A g.29071662G>A C2orf71(NM_001029883.2):c.2600C>T (p.P867L) - C2orf71_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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