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.

4 entries on 1 page. Showing entries 1 - 4.
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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.2020dupA r.(?) p.(Ser676IlefsTer22) Parent #1 ACMG pathogenic g.55538467dup g.54625907dup RP1 c.2020dupA, (p.Ser676IlefsTer22) - RP1_000330 compound heterozygous PubMed: Mizobuchi 2021 - - 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
?/. 4 c.2025dup r.(?) p.(Ser676IlefsTer22) Unknown - VUS g.55538467dup g.54625907dup 2020dupA - RP1_000330 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#015 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 4 c.2025dup r.(?) p.(Ser676IlefsTer22) Parent #1 - likely pathogenic (recessive) g.55538467dup g.54625907dup RP1 c.2025dupA. [p.Ser676IIefs*22] - RP1_000330 heterozygous PubMed: Starosta 2019 - - Germline yes - - - - DNA ? - clinical paper, techniques unknown retinal disease ? PubMed: Starosta 2019 - M - Germany - - - - - 1 LOVD
+?/. 4 c.2025dupA r.(?) p.(Ser676Ilefs*22) Parent #1 - likely pathogenic (recessive) g.55538467dup g.54625907dup RP1; M5: c.2025dupA, p.Ser676Ilefs*22 - RP1_000330 heterozygous PubMed: El Shamieh 2015 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease FamF752patII.1 PubMed: El Shamieh 2015 two sisters affected F - France - - - - - 1 LOVD
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