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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 7 c.958C>T r.(?) p.(Arg320*) - Unknown - pathogenic g.187122467C>T g.186201313C>T - - CYP4V2_000017 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >35y - - - 1 James Hejtmancik
+?/. - c.958C>T r.(?) p.(Arg320Ter) - Parent #1 - likely pathogenic g.187122467C>T g.186201313C>T - - CYP4V2_000017 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W69-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
+?/. 7 c.958C>T r.(?) p.(?) - Parent #2 - likely pathogenic g.187122467C>T g.186201313C>T CYP4V2:NM_207352:exon7:c.958C>T:p.R320X - CYP4V2_000017 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F19-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. 7 c.958C>T r.(?) p.(Arg320*) - Unknown - likely pathogenic (recessive) g.187122467C>T - c.958C>T - CYP4V2_000017 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 7 c.958C>T r.(?) p.(Arg320*) - Unknown - likely pathogenic (recessive) g.187122467C>T - c.958C>T - CYP4V2_000017 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.958C>T r.(?) p.(Arg320*) - Parent #2 - likely pathogenic g.187122467C>T g.186201313C>T c.958C>T, p.R320X - CYP4V2_000017 heterozygous PubMed: Xiao 2011 - - Germline ? 0/192 alleles - - - DNA SEQ - - BCD BCD17 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. - c.958C>T r.(?) p.(Arg320*) - Both (homozygous) - likely pathogenic g.187122467C>T g.186201313C>T CYP4V2 c.958C>T, p.(Arg320Ter) - CYP4V2_000017 subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 7 PubMed: Jiao 2017 - M - - Chinese - - - - 1 LOVD
+/. - c.958C>T r.(?) p.(Arg320Ter) - Parent #2 ACMG pathogenic g.187122467C>T g.186201313C>T CYP4V2 c.958C>T, p.R320X - CYP4V2_000017 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19363 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.958C>T r.(?) p.(Arg320Ter) - Parent #2 ACMG pathogenic g.187122467C>T g.186201313C>T CYP4V2 c.958C>T, p.R320X - CYP4V2_000017 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19305 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.958C>T r.(?) p.(Arg320Ter) - Parent #2 ACMG pathogenic g.187122467C>T g.186201313C>T CYP4V2 c.958C>T, p.R320X - CYP4V2_000017 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28128 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
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