Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006657.2(FTCD):c.1607T>A (p.Leu536Ter) | 10841 | FTCD | Pathogenic | 149266909 | RCV000174758; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008 | 21 | 47556920 | 47556920 | NM_006657.2:c.1607T>A | NP_006648.1:p.Leu536Ter | NC_000021.8:g.47556920A>T | - | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | | |
NM_006657.2(FTCD):c.1366dupG (p.Glu456Glyfs) | 10841 | FTCD | Pathogenic | 777099958 | RCV000174355; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008 | 21 | 47558499 | 47558499 | NM_006657.2:c.1366dupG | NP_006648.1:p.Glu456Glyfs | NC_000021.8:g.47558499dupC | - | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | | |
NM_006657.2(FTCD):c.1358C>T (p.Thr453Met) | 10841 | FTCD | Likely pathogenic | 200283734 | RCV000191087; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008 | 21 | 47558507 | 47558507 | NM_006657.2:c.1358C>T | NP_006648.1:p.Thr453Met | NC_000021.8:g.47558507G>A | - | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | | |
NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) | 10841 | FTCD | Pathogenic | 398124234 | RCV000004234; RCV000081452; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008; MedGen:CN221809 | 21 | 47565840 | 47565840 | NM_006657.2:c.990dupG | NP_006648.1:p.Pro331Alafs | NC_000021.8:g.47565840dupC | HGMD:CI031903,OMIM Allelic Variant:606806.0003 | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY; CN221809 not provided | | |
NM_006657.2(FTCD):c.896G>C (p.Arg299Pro) | 10841 | FTCD | Pathogenic | 119469015 | RCV000004233; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008 | 21 | 47570043 | 47570043 | NM_006657.2:c.896G>C | NP_006648.1:p.Arg299Pro | NC_000021.8:g.47570043C>G | OMIM Allelic Variant:606806.0002 | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | | |
NM_006657.2(FTCD):c.403C>T (p.Arg135Cys) | 10841 | FTCD | Pathogenic | 28941768 | RCV000004232; | N | MedGen:C0268609,OMIM:229100,ORPHA:51208,SNOMED CT:59761008 | 21 | 47571859 | 47571859 | NM_006657.2:c.403C>T | NP_006648.1:p.Arg135Cys | NC_000021.8:g.47571859G>A | OMIM Allelic Variant:606806.0001 | C0268609 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | | |