Full data view for gene FMO3

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/- 4 c.441C>T - r.(=) p.(=) Unknown - benign g.171076935C>T g.171107794C>T 15019A>C (S147S) - FMO3_000092 - PubMed: Koukouritaki et al. 2005 - rs1800822 Germline no HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr) - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.441C>T - r.(?) p.(Ser147=) Unknown - benign g.171076935C>T g.171107794C>T - - FMO3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/- 4 c.441C>T - r.(?) p.(Ser147=) Unknown - likely pathogenic g.171076935C>T g.171107794C>T Ser147Ser - FMO3_000092 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat2 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.441C>T - r.(?) p.(Ser147=) Both (homozygous) - likely pathogenic g.171076935C>T g.171107794C>T Ser147Ser - FMO3_000092 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat8 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.441C>T - r.(?) p.(Ser147=) Both (homozygous) - likely pathogenic g.171076935C>T g.171107794C>T Ser147Ser - FMO3_000092 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat9 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
-/. - c.441C>T - r.(=) p.(=) Parent #1 - benign g.171076935C>T g.171107794C>T 20852C>T - FMO3_000092 - PubMed: Fujieda 2003 - - Germline - - - 0 - DNA SEQ - - TMAU ? PubMed: Fujieda 2003 - - - - - - 0 - - 1 Ornicha Prapapan
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