Full data view for gene FZD4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_012193.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+?/. 2 c.1501_1502de1CT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del FZD4 c1501-1502de1CT, L501fsX533 - FZD4_000009 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family c1501-1502delCT PubMed: Toomes 2004 family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002; - - - North American family - - - - 1 LOVD
+/. 2 c.1501_1502del r.(?) p.(Leu501Serfs*33) Parent #1 - pathogenic g.86662298_86662299del g.86951256_86951257del - - FZD4_000009 0/306 control chromosomes PubMed: Robitaille 2002, Journal: Robitaille 2002, OMIM:var0002 - - Germline yes 1/2 families - - - DNA SEQ - - EVR;FEVR 12172548-Fam2 PubMed: Robitaille 2002, Journal: Robitaille 2002 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1501_1502del r.(?) p.(Leu501Serfs*33) Parent #1 - pathogenic g.86662298_86662299del g.86951256_86951257del - - FZD4_000009 0/200 control chromosomes Toomes 2004b - - Germline yes 1/40 - - - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1501_1502del r.(?) p.(Leu501Serfs*33) Unknown - pathogenic g.86662298_86662299del g.86951256_86951257del 1501_1502delCT - FZD4_000009 - PubMed: Robitaille 2002 - - Germline yes - - - - DNA ? - - EVR;FEVR Patient 2 Robitaille 2002 PubMed: Robitaille 2002 - ? ? - European ? - - - 1 Dimitra Ilektra Lerou
+/. - c.1501_1502del r.(?) p.(Leu501SerfsTer33) Unknown - pathogenic g.86662298_86662299del g.86951256_86951257del - - FZD4_000009 yes PubMed: Salvo 2015 - rs80358303 Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1080001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. - c.1501_1502del r.(?) p.(Leu501SerfsTer33) Unknown - pathogenic g.86662298_86662299del g.86951256_86951257del - - FZD4_000009 - PubMed: Salvo 2015 - rs80358303 Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1347002 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. - c.1501_1502del r.(?) p.(Leu501SerfsTer33) Parent #1 ACMG pathogenic g.86662298_86662299del g.86951256_86951257del - - FZD4_000009 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-295 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1501_1502delCT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del ""a segregating 2 bp deletion in the FZD-4 gene (Robitaile 2002)"" - FZD4_000009 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient I-1 PubMed: Shastry 2004 proband F - - - - - - - 1 LOVD
+?/. - c.1501_1502delCT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del ""a segregating 2 bp deletion in the FZD-4 gene (Robitaile 2002)"" - FZD4_000009 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-2 PubMed: Shastry 2004 proband's daughter 2 F - - - - - - - 1 LOVD
+?/. - c.1501_1502delCT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del ""a segregating 2 bp deletion in the FZD-4 gene (Robitaile 2002)"" - FZD4_000009 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-3 PubMed: Shastry 2004 proband's daughter 3 F - - - - - - - 1 LOVD
+?/. - c.1501_1502delCT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del ""a segregating 2 bp deletion in the FZD-4 gene (Robitaile 2002)"" - FZD4_000009 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-4 PubMed: Shastry 2004 proband's son M - - - - - - - 1 LOVD
+?/. - c.1501_1502delCT r.(?) p.(Leu501Serfs*33) Unknown - likely pathogenic g.86662298_86662299del g.86951256_86951257del ""a segregating 2 bp deletion in the FZD-4 gene (Robitaile 2002)"" - FZD4_000009 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient III-2 PubMed: Shastry 2004 proband's son's son 2 M - - - - - - - 1 LOVD
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