Full data view for gene PRCD

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001077620.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.64C>T r.(?) p.(Arg22Ter) Parent #2 - pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Van Huet 2015 - - Germline - - - 0 - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - 0 - - 1 -
?/. - c.-3G>A r.(=) p.(=) Unknown - VUS g.74536221G>A g.76540139G>A - - PRCD_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs370328118 Germline - 2/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 2 Yoshito Koyanagi
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Li 2017 - - Germline yes - - 0 - DNA SEQ WBC - retinal disease 61376 PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - 1 James Hejtmancik
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236092 Germline - 3/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 3 Yoshito Koyanagi
+/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236092 Germline - 3/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 3 Yoshito Koyanagi
+/. - c.2T>C p.? p.Met1? Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Maeda 2018 - rs527236092 Germline - - - 0 - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat37 PubMed: Maeda 2018 family M - Japan - - 0 - - 1 -
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 164 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 -
+/. - c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Van Huet 2015 - - Germline - - - 0 - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - 0 - - 1 -
+/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C M1T - PRCD_000002 - PubMed: Oishi 2014 - - Germline - - - 0 - DNA SEQ-NG - 193-gene panel retinal disease K6167 PubMed: Oishi 2014 family - - Japan - - 0 - - 1 -
?/. - c.13C>G r.(?) p.(Leu5Val) Unknown - VUS g.74536236C>G g.76540154C>G PRCD(NM_001077620.2):c.13C>G (p.L5V) - PRCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 1 c.49C>T r.(?) p.(Arg17Cys) Unknown - VUS g.74536272C>T g.76540190C>T - - PRCD_000001 - - - - Unknown - - - 0 - DNA SEQ-NG-I - - RP - - - - - (United States) - - 0 - - 1 Feng Wang
-/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - benign g.74536272C>T g.76540190C>T PRCD(NM_001077620.2):c.49C>T (p.R17C) - PRCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - benign g.74536272C>T g.76540190C>T PRCD(NM_001077620.2):c.49C>T (p.R17C) - PRCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52C>T r.(?) p.(Arg18*) Unknown - pathogenic g.74536275C>T g.76540193C>T - - PRCD_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527451635 Germline - 2/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 2 Yoshito Koyanagi
+/. - c.64C>T r.(?) p.(Arg22Ter) Unknown - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs387907268 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. - c.64C>T r.(?) p.(Arg22*) Unknown ACMG pathogenic g.74536287C>T - - - PRCD_000006 - PubMed: Sharon 2019 - - Germline - 15/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 15 IRD families - - Israel - - 0 - - 15 Global Variome, with Curator vacancy
+/. - c.64C>T r.(?) p.(Arg22*) Unknown - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 164 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 -
+/. 1 c.64C>T r.(?) p.(Arg22Ter) Both (homozygous) - pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Beheshtian 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES retinal disease 9200034/I-39360 PubMed: Beheshtian 2015 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes Iran - - 0 - - 2 -
+?/. - c.70C>T r.(?) p.(Gln24Ter) Both (homozygous) - likely pathogenic g.74536293C>T g.76540211C>T - - PRCD_000010 - PubMed: Riera 2017 - - Germline yes - - 0 - DNA SEQ-NG - 212-gene panel retinal disease Fi15/24 PubMed: Riera 2017 family, several affected - - Spain - - 0 - - 2 -
+/. - c.74+1G>A r.spl? p.? Both (homozygous) - pathogenic g.74536298G>A g.76540216G>A - - PRCD_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs779066277 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+?/. - c.74+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.74536298G>A g.76540216G>A - - PRCD_000009 - PubMed: Perez-Carro 2016 - - Germline yes - - 0 - DNA SEQ-NG - gene panel retinal disease RP-0040 PubMed: Perez-Carro 2016 - - - Spain - - 0 - - 1 -
-/. - c.74+14C>T r.(=) p.(=) Unknown - benign g.74536311C>T g.76540229C>T PRCD(NM_001077620.2):c.74+14C>T - CYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143+13T>C r.(=) p.(=) Unknown - benign g.74536668T>C g.76540586T>C PRCD(NM_001077620.2):c.143+13T>C - PRCD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*60-19C>T r.(=) p.(=) Unknown - benign g.74539092C>T g.76543010C>T PRCD(NM_001077620.2):c.*60-19C>T - PRCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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