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.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+?/. 1 c.778A>T r.(?) p.(Lys260*) Unknown - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 Ex 1. c.550G>A p.(Glu184Lys), Ex.1 c.778 A>T p.(Lys260*) - KCNV2_000144 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2621 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #1 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.K260X - KCNV2_000144 heterozygous PubMed: Wissinger 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 11323_SR PubMed: Wissinger 2008 - M - - - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #1 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778T>T, p.Lys260X - KCNV2_000144 heterozygous PubMed: Thiagalingam 2007 - - Unknown ? - - - - DNA STR, arraySNP, SEQ blood - retinal disease 231-001 PubMed: Thiagalingam 2007 - F - - European - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #1 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.Lys260X - KCNV2_000144 heterozygous PubMed: Thiagalingam 2007 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease 273-001 PubMed: Thiagalingam 2007 sibling also affected F - - European - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Paternal (confirmed) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.Lys260X - KCNV2_000144 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO390_GL PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Paternal (confirmed) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.Lys260X - KCNV2_000144 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO390_AT PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #1 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.(Lys260*) - KCNV2_000144 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC20307_MEH018 PubMed: Georgiou 2021 family GC20307, individual MEH018 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Both (homozygous) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.(Lys260*) - KCNV2_000144 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC25683_MEH026 PubMed: Georgiou 2021 family GC25683, individual MEH026 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Both (homozygous) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778 A>T, p.(Lys260*) - KCNV2_000144 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease MEH-PP37_MEH037 PubMed: Georgiou 2021 family MEH-PP37, individual MEH037 F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Both (homozygous) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778 A>T, p.(Lys260*) - KCNV2_000144 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease FJD02_FJD02-1 PubMed: Georgiou 2021 family FJD02, individual FJD02-1 M - Spain - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Both (homozygous) - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778 A>T, p.(Lys260*) - KCNV2_000144 homozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease FJD02_FJD02-2 PubMed: Georgiou 2021 family FJD02, individual FJD02-2 M - Spain - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #1 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.(Lys260*) - KCNV2_000144 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease 4328_CEI-03 PubMed: Georgiou 2021 family 4328, individual CEI-03 F - United States - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #2 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.(Lys260*) - KCNV2_000144 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease GC26111_MEH027 PubMed: Georgiou 2021 family GC26111, individual MEH027 M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.778A>T r.(?) p.(Lys260*) Parent #2 - likely pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778 A>T, p.(Lys260*) - KCNV2_000144 heterozygous PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood multiple centers, various techniques retinal disease FJD01_FJD01 PubMed: Georgiou 2021 family FJD01, individual FJD01 M - Spain - - - - - 1 LOVD
+/. - c.778A>T r.(?) p.(Lys260*) Unknown ACMG pathogenic g.2718517A>T g.2718517A>T KCNV2 c.778A>T, p.Lys260Ter - KCNV2_000144 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 19_21 PubMed: Zhu 2022 family 19, individual 21 F - - - - - - - 1 LOVD
+/. 1 c.778A>T r.(?) p.(Lys260Ter) Parent #1 ACMG pathogenic g.2718517A>T g.2718517A>T - - KCNV2_000144 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067121 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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