Full data view for gene INVS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014425.2 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     
?/. 13 c.1948G>C r.(?) p.(Ala650Pro) Unknown - VUS g.103046765G>C g.100284483G>C - - INVS_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 13 c.1948G>C r.(?) p.(Ala650Pro) Unknown - VUS g.103046765G>C g.100284483G>C - - INVS_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. 13 c.1948G>C r.(?) p.(Ala650Pro) Parent #1 - benign g.103046765G>C g.100284483G>C - - INVS_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
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