Full data view for gene RP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006269.1 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Parent #2 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, p.Tyr1352Alafs - RP1_000255 heterozygous PubMed: Nishiguchi 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease OPH-147 PubMed: Nishiguchi 2020 new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Parent #2 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, p.Tyr1352Alafs - RP1_000255 heterozygous PubMed: Nishiguchi 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease OPH-334 PubMed: Nishiguchi 2020 new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Parent #2 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, p.Tyr1352Alafs - RP1_000255 heterozygous PubMed: Nishiguchi 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease OPH-605 PubMed: Nishiguchi 2020 new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Parent #2 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, p.Tyr1352Alafs - RP1_000255 heterozygous PubMed: Nishiguchi 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease YWC62 PubMed: Nishiguchi 2020 new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Parent #2 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, p.Tyr1352Alafs - RP1_000255 heterozygous PubMed: Nishiguchi 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease YWC195 PubMed: Nishiguchi 2020 new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*10 - RP1_000255 homozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 1_NA0039 PubMed: Ueno 2020 family 1, individual NA0039, proband (II:2) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*11 - RP1_000255 homozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 1_NA1039 PubMed: Ueno 2020 family 1, individual NA1039, proband's brother (II:1) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*12 - RP1_000255 homozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 2_NA0048 PubMed: Ueno 2020 family 2, individual NA0048, proband (II:2) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*13 - RP1_000255 homozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 2_NA1048 PubMed: Ueno 2020 family 2, individual NA1048, proband's brother (II:1) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 homozygous PubMed: Ueno 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 3_NA0070 PubMed: Ueno 2020 family 3, individual NA0070, proband (II:1) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Maternal (confirmed) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 4_NA0201 PubMed: Ueno 2020 family 4, individual NA0201, proband (II:2) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Maternal (confirmed) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 4_NA1201 PubMed: Ueno 2020 family 4, individual NA1201, proband's sister (II:1) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Paternal (inferred) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 5_NA0209 PubMed: Ueno 2020 family 5, individual NA0209, proband (II:2) M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Paternal (inferred) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 5_NA1209 PubMed: Ueno 2020 family 5, individual NA1209, proband's sister (II:1) F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Paternal (confirmed) ACMG pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A.II-2 PubMed: Won 2021 family A, individual II:2 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Maternal (confirmed) ACMG pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel sequencing, whole exome and genome sequencing retinal disease B.II-1 PubMed: Won 2021 family B, individual II:1 F - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Unknown ACMG pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Won 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease C.II-2 PubMed: Won 2021 family C, individual II:2 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Paternal (inferred) ACMG pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel sequencing retinal disease E.II-1 PubMed: Won 2021 family E, individual II:1 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352Alafs*9) Maternal (confirmed) ACMG pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328/p.Tyr1352Alafs*14 - RP1_000255 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing retinal disease D.II-2 PubMed: Won 2021 family D, individual II:2 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Both (homozygous) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 homozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 8_JU0555/1 PubMed: Mizobuchi 2021 family 8, individual JU0555/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Both (homozygous) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 homozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 9_JU0750/1 PubMed: Mizobuchi 2021 family 9, individual JU0750/1 F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Maternal (confirmed) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 11_JUI662/ PubMed: Mizobuchi 2021 family 11, individual JUI662/ M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Both (homozygous) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 homozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 14_HM_0201/2 PubMed: Mizobuchi 2021 family 14, individual HM_020I/2 F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Both (homozygous) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 homozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 14_HM_0198 PubMed: Mizobuchi 2021 family 14, individual HM_0198 F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Paternal (confirmed) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 21_JU1339/1 PubMed: Mizobuchi 2021 family 21, individual JU1339/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Maternal (inferred) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 22_JU1947/1 PubMed: Mizobuchi 2021 family 22, individual JU1947/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Parent #1 ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 23_JU1978/1 PubMed: Mizobuchi 2021 family 23, individual JU1978/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Maternal (inferred) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 6_JU0504/1 PubMed: Mizobuchi 2021 family 6, individual JU0504/1, proband F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Parent #2 ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - rs775253277 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 7_JU0547/1 PubMed: Mizobuchi 2021 family 7, individual JU0547/1 F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Maternal (confirmed) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 15_JU1000/1 PubMed: Mizobuchi 2021 family 15, individual JU1000/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053ins328 r.(?) p.(Tyr1352AlafsTer9) Paternal (inferred) ACMG pathogenic g.55540494_55540495insN[328] g.54627934_54627935insN[328] RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9) - RP1_000255 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 16_JU1464/1 PubMed: Mizobuchi 2021 family 16, individual JU1464/1 F - Japan Japanese - - - - 1 LOVD
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease R(O)39 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease R(O)48 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease R(O)70 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease RN36 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease OPH‐635 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Both (homozygous) - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 08_20 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 201 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 209 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease C1 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease M5 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease M7 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4052_4053insN[328] r.(?) p.(Tyr1352Alafs*9) Parent #1 - pathogenic (recessive) g.55540494_55540495insN[328] g.54627934_54627935insN[328] - - RP1_000255 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease OPH‐280 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.4052_4053insN[328] r.? p.? Maternal (confirmed) - pathogenic g.55540494_55540495insN[328] - - - RP1_000255 - - - - Germline - - - - - DNA SEQ-NG-I - - CORD IR_GH_0021 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4052_4053insN[328] r.? p.(Tyr1352Alafs*9) Unknown ACMG pathogenic g.55540494_55540495insN[328] - - - RP1_000255 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0072 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4052_4053insN[328] r.? p.(Tyr1352Alafs*9) Unknown ACMG pathogenic g.55540494_55540495insN[328] - - - RP1_000255 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - macular dystrophy IR_GS_0191 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
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