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.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G g.42721781A>G - - PRPH2_000004 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Parent #1 - pathogenic (dominant) g.42689519A>G - - - PRPH2_000004 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Parent #1 - pathogenic g.42689519A>G - RDS: 554T>C - PRPH2_000004 Digenic with ROM1 Ala114fs PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 3 Julia Lopez
+?/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown ACMG likely pathogenic g.42689519A>G g.42721781A>G - - PRPH2_000004 ACMG PS4, PM1, PP1, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Maternal (inferred) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1991, PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6935_II:3;III:9 PubMed: Kajiwara 1994 Father of inex case and Family_6935_III:6 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6935_III:6 PubMed: Kajiwara 1991 Brother index case, son of Family_6935_II:3 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1991, PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6935_III:7;AD8=IV:13 PubMed: Kajiwara 1994 index case, brother of Family_6935_III:6, son of Family_6935_II:3 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1991, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown - 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease AD8 PubMed: Kajiwara 1991 index case - - United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Maternal (inferred) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_III:15 PubMed: Kajiwara 1994 Father of Family_6285_IV:25, grandfather of Family_6285_V_12, uncle of index case, Family_6285_IV:15, and Family_6285_IV:21 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (inferred) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_IV:15 PubMed: Kajiwara 1994 Sister index case and Family_6285_IV:21, niece of Family_6285_IV:25, great-aunt of Family_6285_V_12, niece of Family_6285_III:15 F no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (inferred) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_IV:19 PubMed: Kajiwara 1994 index case, sister of Family_6285_IV:15 and Family_6285_IV:21, niece of Family_6285_IV:25, great aunt of Family_6285_V:12, niece of Family_6285_III:15 F no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (inferred) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_IV:21 PubMed: Kajiwara 1994 Brother index case and Family_6285_IV:25, cousin of Family_6285_IV:25, great-uncle of Family_6285_V_12, cousin of Family_6285_III:15 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_IV:25 PubMed: Kajiwara 1994 Niece index case, Family_6285_IV:15, and Family_6285_IV:21, mother of Family_6285_V_12, daughter of Family_6285_III:15 F no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Maternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_6285_V_12 PubMed: Kajiwara 1994 Great cousin of index case, Family_6285_IV:15, and Family_6285_IV:21, son of Family_6285_IV:25, grandson Family_6285_III:15 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes - -MvaI - - DNA PCR, SSCA blood - retinal disease Family_5509_II:1 PubMed: Kajiwara 1994 index case, brother of Family_5509_II:6 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Kajiwara 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes - -MvaI - - DNA PCR, SSCA blood - retinal disease Family_5509_II:6 PubMed: Kajiwara 1994 Sister index case F no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_0782_I:2 PubMed: Dryja 1997 Father of index case and Family_0782_II:6, grandfathter of Family_0782_III:1 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_0782_II:5 PubMed: Dryja 1997 index case, son of Family_0782_I:2, brother of Family_0782_II:6, uncle of Family_0782_III:1 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_0782_II:6 PubMed: Dryja 1997 Brother of index case, son of Family_0782_I:2, father of Family_0782_III:1 M no United States - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Paternal (confirmed) - likely pathogenic (dominant) g.42689519A>G g.42721781A>G p.Leu185Pro - PRPH2_000004 - PubMed: Dryja 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 1/227 cases -MvaI - - DNA PCR, SSCA blood - retinal disease Family_0782_III:1 PubMed: Dryja 1997 Niece index case, daughter of Family_0782_II:6, granddaughter of Family_0782_I:2 F no United States - - - - - 1 Manon Peeters
+/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G g.42721781A>G c.554T>C, p.L185P - PRPH2_000004 - PubMed: Wang 2013, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown no 2/179 -MvaI - - DNA PCR, SEQ, SEQ-NG blood - retinal disease 3256 PubMed: Wang 2013 index case F no United States - - - - - 1 Manon Peeters
+/+? 1 c.554T>C r.(?) p.(Leu185Pro) Both (homozygous) - pathogenic g.42689519A>G g.42721781A>G c.554T>C, p.L185P - PRPH2_000004 - PubMed: Wang 2013, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 2/179 -MvaI - - DNA PCR, SEQ, SEQ-NG blood - retinal disease 741 PubMed: Wang 2013 index case F no United States - - - - - 1 Manon Peeters
+/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G g.42721781A>G c.554T>C, p.L185P - PRPH2_000004 - PubMed: Wang 2013, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 2/179 -MvaI - - DNA PCR, SEQ, SEQ-NG blood - retinal disease Father of 741 PubMed: Wang 2013 Father index case M no United States - - - - - 1 Manon Peeters
+/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G g.42721781A>G c.554T>C, p.L185P - PRPH2_000004 - PubMed: Wang 2013, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Germline yes 2/179 -MvaI - - DNA PCR, SEQ, SEQ-NG blood - retinal disease Mother of 741 PubMed: Wang 2013 Mother index case F no United States - - - - - 1 Manon Peeters
?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - VUS g.42689519A>G g.42721781A>G c.554T>C p.L185P - PRPH2_000004 - PubMed: Coussa 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown - 3/60 -MvaI - - DNA PCR, SEQ blood - retinal disease Case1 PubMed: Coussa 2015 index case, suspected familial (autosomal dominant) - - Canada - - - - - 1 Manon Peeters
?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - VUS g.42689519A>G g.42721781A>G c.554T>C p.L185P - PRPH2_000004 - PubMed: Coussa 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown - 3/60 -MvaI - - DNA PCR, SEQ blood - retinal disease Case2 PubMed: Coussa 2015 index case, suspected familial (autosomal dominant) - - Canada - - - - - 1 Manon Peeters
?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - VUS g.42689519A>G g.42721781A>G c.554T>C p.L185P - PRPH2_000004 - PubMed: Coussa 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown - 3/60 -MvaI - - DNA PCR, SEQ blood - retinal disease Case3 PubMed: Coussa 2015 index case, suspected familial (autosomal dominant) - - Canada - - - - - 1 Manon Peeters
+?/+? 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - likely pathogenic (dominant) g.42689519A>G g.42721781A>G c.554T>C; p.Leu185Pro - PRPH2_000004 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs121918563 Unknown - 1/187 -MvaI - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 144 PubMed: Reeves 2020 index case M - United States (white) - - - - 1 Manon Peeters
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G - c.554T>C - PRPH2_000004 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. - c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G g.42721781A>G PRPH2 c.554T>C, p.Leu185Pro - PRPH2_000004 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2907_004492 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G - c.554T>C - PRPH2_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Both (homozygous) - pathogenic g.42689519A>G - c.554T>C - PRPH2_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G - c.554T>C - PRPH2_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Unknown - pathogenic g.42689519A>G - c.554T>C - PRPH2_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 1 c.554T>C r.(?) p.(Leu185Pro) Parent #1 ACMG pathogenic g.42689519A>G g.42721781A>G - - PRPH2_000004 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079505 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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