Full data view for gene SNRNP200

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014014.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
?/. 31i c.? r.(?) p.(?) Parent #1 - VUS g.? - IVS31-9G>A - SNRNP200_000007 no G at 4393-9 PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Arg681Lys - SNRNP200_000007 - PubMed: Daiger 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease UTAD565 PubMed: Daiger 2014 - - - United States - - 0 - - 1 LOVD
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