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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

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ClinVar ID     

dbSNP ID     

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ID_report     

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Owner     
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Paternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Maternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Paternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Maternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Paternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers F yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Maternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers F yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Paternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Maternal (inferred) - pathogenic g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 homozygosity mapping; not in 308 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 2-generation family, 4 affecteds, unaffected carriers M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Paternal (confirmed) - pathogenic (recessive) g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0331 PubMed: Sharon 2019 family M no Israel Jewish - - - - 2 Dror Sharon
+/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Unknown ACMG pathogenic g.29294360_29294372del - - - C2orf71_000005 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Both (homozygous) - pathogenic g.29294360_29294372del - c.2756_2768del - C2orf71_000005 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Turkey - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Parent #1 - likely pathogenic g.29294363_29294375del g.29071497_29071509del PCARE, variant 1: c.2756_2768del/p.K919Tfs*2, variant 2: c.2950C>T/p.R984* - C2orf71_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 906 PubMed: Weisschuh 2020 Filing key number: 383, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Parent #1 - likely pathogenic g.29294363_29294375del g.29071497_29071509del PCARE, variant 1: c.2756_2768del/p.K919Tfs*2 , variant 2: c.2756_2768del/p.K919Tfs*2 - C2orf71_000005 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1088 PubMed: Weisschuh 2020 Filing key number: 724, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Parent #1 - likely pathogenic g.29294363_29294375del g.29071497_29071509del PCARE, variant 1: c.2756_2768del/p.K919Tfs*2 , variant 2: c.2756_2768del/p.K919Tfs*2 - C2orf71_000005 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 1089 PubMed: Weisschuh 2020 Filing key number: 724, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Both (homozygous) - likely pathogenic g.29294363_29294375del g.29071497_29071509del C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2] - C2orf71_000005 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F10_II.1 PubMed: Habibi 2020 Family F10, patient II.1 F - Tunisia - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Both (homozygous) - likely pathogenic g.29294363_29294375del g.29071497_29071509del C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2] - C2orf71_000005 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F10_II.2 PubMed: Habibi 2020 Family F10, patient II.2 M - Tunisia - - - - - 1 LOVD
+?/. - c.2756_2768del r.(?) p.(Lys919Thrfs*2) Both (homozygous) - likely pathogenic g.29294363_29294375del g.29071497_29071509del C2ORF71 c.[2756_2768del13];[ 2756_2768del13], p.[K919Tfs*2];[ K919Tfs*2] - C2orf71_000005 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F10_II.3 PubMed: Habibi 2020 Family F10, patient II.3 M - Tunisia - - - - - 1 LOVD
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Parent #1 - pathogenic (recessive) g.29294360_29294372del - c.2756_2768del - C2orf71_000005 - PubMed: Gerth Kahlert 2017 - - Unknown yes - - - - DNA SEQ-NG, SEQ - - retinal disease Fam9- 11 PubMed: Gerth Kahlert 2017 - M - - Lebanese/Armenian - - - - 1 LOVD
+/. 1 c.2756_2768del r.(?) p.(Lys919Thrfs*2) Both (homozygous) - pathogenic g.29294360_29294372del - c.2756_2768del - C2orf71_000005 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.2756_2768del r.(?) p.(Lys919ThrfsTer2) Unknown ACMG pathogenic (recessive) g.29294363_29294375del g.29071497_29071509del - - C2orf71_000005 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 105 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-829 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
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