Full data view for gene C1QTNF5

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     
+?/. - c.-2145del r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP 492delC - C1QTNF5_000020 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:1 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP 492delC - C1QTNF5_000020 heterozygous PubMed: Sundin 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease C_II:2 PubMed: Sundin 2005 kindred C F - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, P166fsX190 - C1QTNF5_000020 homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25) PubMed: Crespi 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Crespi 2008 parents first cousins ? yes - Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 homozygous PubMed: Zenteno 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient #1 PubMed: Zenteno 2009 Patient #1, sister of Patient #2 F - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 homozygous PubMed: Zenteno 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient #2 PubMed: Zenteno 2009 Patient #2, brother of Patient #21 M - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.492 delC (homo); p.Asn167Thr fs25X - C1QTNF5_000020 homozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 3_II-1 PubMed: Mukhopadhyay 2010 - M - - - - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167ThrfsX25 - C1QTNF5_000020 heterozygous PubMed: Dinculescu 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Dinculescu 2012 - F no - German/English/ French - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP 492delC (alternatively named c.498delC), P166fsX190 - C1QTNF5_000020 homozygous PubMed: Neri 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Neri 2012 - F - - Mexican - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Ritter 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient No 2 PubMed: Ritter 2013 Turkish family, proband's son M - Austria Turkish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Unknown - likely pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 heterozygous PubMed: Ritter 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient No 1 PubMed: Ritter 2013 Turkish family, proband F - Austria Turkish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Parent #1 - likely pathogenic g.119216279del g.119345569del MFRP c.492delC - C1QTNF5_000020 heterozygous PubMed: Zacharias 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Zacharias 2015 - F - - - - - - topical dorsolamide: 2% 4 times a day as an attempt to reduce the cystoid macular edema for two months 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood clinical exome retinal disease III-1 PubMed: Morillo Sanchez 2019 Spanish family, sibling 1 F yes Spain Spanish - - - - 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ blood clinical exome retinal disease III- 2 PubMed: Morillo Sanchez 2019 Spanish family, sibling 2 F yes Spain Spanish - - - - 1 LOVD
+/. - c.-2145del r.(=) p.(=) Both (homozygous) - pathogenic g.119216279del g.119345569del MFRP c.498del, p.(Asn167Thrfs*25) - C1QTNF5_000020 homozygous PubMed: Morillo Sanchez 2019 - - Germline yes - - - - DNA SEQ blood clinical exome retinal disease III- 3 PubMed: Morillo Sanchez 2019 Spanish family, sibling 3 M yes Spain Spanish - - - - 1 LOVD
+?/. - c.-2145del r.(=) p.(=) Both (homozygous) - likely pathogenic g.119216279del g.119345569del MFRP c.498delC, p.Asn167fs (hom) - C1QTNF5_000020 homozygous PubMed: Guo 2019 - - Germline yes GnomAD: 31/274316 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 11 PubMed: Guo 2019 Trio number 11 - - China Chinese - - - - 1 LOVD
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del g.119345569del MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del - MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2139del r.(?) p.(=) Unknown - pathogenic g.119216279del - MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25) - C1QTNF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1019_-1016del r.(=) p.(=) Parent #1 - likely pathogenic g.119212377_119212380del g.119341667_119341670del MFRP c.492 delC (het); p.Asn167Thr fs25X - C1QTNF5_000020 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 4_III-1 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
+?/. - c.-1019_-1016del r.(=) p.(=) Parent #2 - likely pathogenic g.119212377_119212380del g.119341667_119341670del MFRP c.1622_1625 delTCTG (het); p.Val541Ala fs188X - C1QTNF5_000020 heterozygous PubMed: Mukhopadhyay 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 4_III-1 PubMed: Mukhopadhyay 2010 - F - - - - - - - 1 LOVD
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