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.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Allele     
Classification method     
Clinical classification     
DNA change (genomic) (hg19)     
DNA change (hg38)     
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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     
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Age at death     
VIP     
Data_av     
Treatment     
Panel size     
Owner     
+/. 2 c.469A>G r.(?) p.(Met157Val) Parent #1 - pathogenic g.86663329T>C g.86952287T>C - - FZD4_000016 0/400 control chromosomes Toomes 2004b - - Germline yes 1/40 - - - DNA SEQ - - EVR;FEVR - Toomes 2004b - - - - - - - - - 1 Johan den Dunnen
+/. - c.469A>G r.(?) p.(Met157Val) Unknown - pathogenic g.86663329T>C g.86952287T>C - - FZD4_000016 - PubMed: Salvo 2015 - rs80358286 Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 720001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 1 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 1; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 2 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 2; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 3 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 3; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 4 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 4; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 5 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 5; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 6 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 6; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 7 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 7; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 8 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 8; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
+?/. 2 c.469A>G r.(?) p.(Met157Val) Unknown - likely pathogenic g.86663329T>C g.86952287T>C FZD4 c469A>G, M157V - FZD4_000016 heterozygous PubMed: Toomes 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 family M157V, individual 9 PubMed: Toomes 2004 family numbers and patient numbers unavailable; family M157V, individual 9; large American family, four generations, nine affecteds, wide spectrum of phenotypes; three of these affected individuals, FEVR was diagnosed only by fluorescein angiography, and they had no clinical problems, whereas other affected individuals had a more severe range of phenotypes, including macular folds and retinal detachments - - - American - - - - 1 LOVD
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