Unique variants in the PRCD gene

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.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 - 
c.64C>T r.(?) p.(Arg22Ter) - pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Van Huet 2015 - - Germline - - - - - -
?/. 1 - c.-3G>A r.(=) p.(=) - VUS g.74536221G>A g.76540139G>A - - PRCD_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs370328118 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 7 1 c.2T>C p.?, r.(?) p.(Met1?), p.0?, p.Met1? - pathogenic, pathogenic (recessive) g.74536225T>C g.76540143T>C M1T - PRCD_000002 - PubMed: Haer-Wigman 2017, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Li 2017, 3 more items - rs527236092 Germline yes 3/1204 cases with retinitis pigmentosa - - - James Hejtmancik, Yoshito Koyanagi
?/. 1 - c.13C>G r.(?) p.(Leu5Val) - 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 - - - - - VKGL-NL_Rotterdam
+?/?, -/. 3 1 c.49C>T r.(?) p.(Arg17Cys) - benign, VUS g.74536272C>T g.76540190C>T PRCD(NM_001077620.2):c.49C>T (p.R17C) - PRCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Feng Wang, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.52C>T r.(?) p.(Arg18*) - pathogenic g.74536275C>T g.76540193C>T - - PRCD_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527451635 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 5 1 c.64C>T r.(?) p.(Arg22*), p.(Arg22Ter) ACMG pathogenic, pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 VKGL data sharing initiative Nederland PubMed: Beheshtian 2015, PubMed: Haer-Wigman 2017, PubMed: Koyanagi 2019, Journal: Koyanagi 2019, 1 more item - rs387907268 CLASSIFICATION record, Germline yes 1/1204 cases with retinitis pigmentosa, 15/2420 IRD families - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen, Yoshito Koyanagi
+?/. 1 - c.70C>T r.(?) p.(Gln24Ter) - likely pathogenic g.74536293C>T g.76540211C>T - - PRCD_000010 - PubMed: Riera 2017 - - Germline yes - - - - -
+/., +?/. 2 - c.74+1G>A r.spl, r.spl? p.? - likely pathogenic, pathogenic g.74536298G>A g.76540216G>A - - PRCD_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Perez-Carro 2016 - rs779066277 Germline yes 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.74+14C>T r.(=) p.(=) - benign g.74536311C>T g.76540229C>T PRCD(NM_001077620.2):c.74+14C>T - CYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.143+13T>C r.(=) p.(=) - benign g.74536668T>C g.76540586T>C PRCD(NM_001077620.2):c.143+13T>C - PRCD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*60-19C>T r.(=) p.(=) - benign g.74539092C>T g.76543010C>T PRCD(NM_001077620.2):c.*60-19C>T - PRCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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