Full data view for gene PRPH2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000322.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.647C>T r.(?) p.(Pro216Leu) Unknown ACMG pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease TB50 PubMed: Kimchi 2018, PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.647C>T r.(?) p.(Pro216Leu) Parent #1 - pathogenic (dominant) g.42672284G>A g.42704546G>A NM_000322:647C>T, CCT?CTT Pro216Leu - PRPH2_000089 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.647C>T r.(?) p.(Pro216Leu) Parent #1 - pathogenic (dominant) g.42672284G>A g.42704546G>A NM_000322:647C>T, CCT?CTT Pro216Leu - PRPH2_000089 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-5250 PubMed: Jones 2017 5-generation family, 11 affected (5F, 6M) F - United States - - - - - 11 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-11704 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-10397 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-6275 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-9566 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-6121 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-6173 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM3-6248 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 896 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 2 c.647C>T r.(?) p.(Pro216Leu) Parent #1 ACMG likely pathogenic (dominant) g.42672284G>A g.42704546G>A - - PRPH2_000089 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ - - retinal disease FAM_042 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 2 c.647C>T r.(?) p.(Pro216Leu) Parent #1 - pathogenic g.42672284G>A g.42704546G>A RDS: 647C>T - PRPH2_000089 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 2 families - - United States - - - - - 6 Julia Lopez
?/. 2 c.647C>T r.(?) p.(Pro216Leu) Unknown ACMG VUS g.42672284G>A g.42704546G>A - - PRPH2_000089 ACMG PS4, PM1, PP1_moderate, BP4; contradictory ACMG categories PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (inferred) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_II:2 PubMed: Kajiwara 1991 Uncle index case/Family_6948_III:5, brother Family_6948_II:4/II:6, familymember Family_6948_IV:1/IV:3/IV:5 M no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (inferred) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_II:4 PubMed: Kajiwara 1991 Brother Family_6948_II:2/II:6, father Family_6948_III:5, uncle index case, grandfather Family_6948_IV:1/IV:3, familymember Family_6948_IV:5 M no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (inferred) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_II:6 PubMed: Kajiwara 1991 Sister Family_6948_II:2/II:4, aunt of Family_6948_III:5/index case, familymember Family_6948_IV:1/IV:3/IV:5 F no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (confirmed) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_III:5 PubMed: Kajiwara 1991 Daughter of Family_6948_II:4, niece Family_6948_II:2/II:6/index case, mother Family_6948_IV:1/IV:3, first niece (once remove) Family_6948_IV:5 F no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (inferred) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_III:9 (AD32) PubMed: Kajiwara 1991 index case, father Family_6948_IV:5, cousin Family_6948_II:2/II:4/II:6/III:5, first cousin (once removed) Family_6948_IV:1/IV:3 M no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Maternal (confirmed) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_IV:1 PubMed: Kajiwara 1991 Daughter Family_6948_III:5, sister Family_6948_IV:3, second niece Family_6948_IV:5, granddaughter Family_6948_II:4, first niece (once removed) index case, family member Family_6948_II:2/II:6 F no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Maternal (confirmed) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_IV:3 PubMed: Kajiwara 1991 Daughter Family_6948_III:5, sister Family_6948_IV:1, second niece Family_6948_IV:5, granddaughter Family_6948_II:4, first niece (once removed) index case, family member Family_6948_II:2/II:6 F no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Paternal (confirmed) - likely pathogenic (dominant) g.42672284G>A g.42704546G>A p.Pro216 Leu - PRPH2_000089 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/227 cases - - - DNA PCR, SSCA blood - retinal disease Family_6948_IV:5 PubMed: Kajiwara 1991 Son index case, second cousin Family_6948_IV:1/IV:3, first cousin (once removed) Family_6948_III:5, familymember Family_6948_II:2/II:4/II:6 M no United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic (dominant) g.42672284G>A g.42704546G>A Pro216Leu - PRPH2_000089 - PubMed: Yang 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 2/4 - - - DNA PCR, RFLP, SEQ blood - retinal disease Patient 1 PubMed: Yang 2000 index case, family member patient 2 - - China Asia - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic (dominant) g.42672284G>A g.42704546G>A Pro216Leu - PRPH2_000089 - PubMed: Yang 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 2/4 - - - DNA PCR, RFLP, SEQ blood - retinal disease Patient 2 PubMed: Yang 2000 Family member index case - - China Asia - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T; p.Pro216Leu - PRPH2_000089 - PubMed: Renner 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Unknown - 1/22 - - - DNA PCR, SEQ blood - retinal disease 729 PubMed: Renner 2009 index case F - Germany white - - - - 1 Manon Peeters
+/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T; p.Pro216Leu - PRPH2_000089 - PubMed: Sullivan 2013, PubMed: Sullivan 2006, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Unknown - 1/170 - - - DNA PCR, SEQ blood - retinal disease RFS184 PubMed: Sullivan 2013, PubMed: Sullivan 2006 index case - - United States - - - - - 1 Manon Peeters
+?/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T ; p.(Pro216Leu) S - PRPH2_000089 - PubMed: Van Cauwenbergh 2017, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Germline yes 1/86 - - - DNA PCR, SEQ blood - retinal disease FAM_042 PubMed: Van Cauwenbergh 2017 index case - - Belgium white - - - - 1 Manon Peeters
+/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T; p.Pro216Leu - PRPH2_000089 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Unknown - 3/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 88 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T; p.Pro216Leu - PRPH2_000089 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Unknown - 3/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 89 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+/? 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A g.42704546G>A c.647C>T; p.Pro216Leu - PRPH2_000089 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755806 Unknown - 3/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 143 PubMed: Reeves 2020 index case M - United States (white) - - - - 1 Manon Peeters
+?/. 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - likely pathogenic g.42672284G>A - c.647C>T - PRPH2_000089 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.647C>T r.(?) p.(Pro216Leu) Parent #1 - likely pathogenic g.42672284G>A g.42704546G>A PRPH2, variant 1: c.647C>T/p.P216L - PRPH2_000089 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1104 PubMed: Weisschuh 2020 Filing key number: 744, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 2 c.647C>T r.(?) p.(Pro216Leu) Unknown - pathogenic (dominant) g.42672284G>A - c.647C>T - PRPH2_000089 - PubMed: Colombo-2020 - rs61755806 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
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