Full data view for gene CYP4V2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_207352.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/. 2i c.328-1G>A r.spl p.? - Parent #2 - pathogenic g.187117156G>A g.186196002G>A IVS2-1G>A - CYP4V2_000041 - PubMed: Li 2004, Journal: Li 2004 - - Germline - - - - - DNA SEQ - - BCD - PubMed: Li 2004, Journal: Li 2004 - - - - European - - - - 1 Johan den Dunnen
+/. - c.328-1G>A r.spl p.? - Parent #2 ACMG pathogenic g.187117156G>A g.186196002G>A CYP4V2 c.328-1G>A, Exon3del - CYP4V2_000041 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28160 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
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