Full data view for gene RHO

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000539.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 predicted to affect function, but insufficient evidence for definite conclusion; potentially de novo PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104893775 Germline - 2/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - RP - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 2 Yoshito Koyanagi
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