Full data view for gene KCNV2

This database is one of the ""Eye disease"" gene variant databases.""
Information The variants shown are described using the NM_133497.3 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     
+?/. - c.1211T>C r.(?) p.(Leu404Pro) Paternal (confirmed) - likely pathogenic g.2718950T>C g.2718950T>C KCNV2 c.1211T>C, p.Leu404Pro - KCNV2_000200 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO8_VH PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.1211T>C r.(?) p.(Leu404Pro) Paternal (confirmed) - likely pathogenic g.2718950T>C g.2718950T>C KCNV2 c.1211T>C, p.Leu404Pro - KCNV2_000200 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO8_MAH PubMed: Wissinger 2011 - M - - - - - - - 1 LOVD
+?/. - c.1211T>C r.(?) p.(Leu404Pro) Unknown ACMG likely pathogenic (recessive) g.2718950T>C g.2718950T>C - - KCNV2_000200 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-395 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
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