Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_003748.3(ALDH4A1):c.1560dupT (p.Gly521Trpfs) | 8659 | ALDH4A1 | Pathogenic | 779536510 | RCV000004209; | N | MedGen:C2931835,OMIM:239510,ORPHA:79101,SNOMED CT:124177001 | 1 | 19200976 | 19200976 | NM_003748.3:c.1560dupT | NP_003739.2:p.Gly521Trpfs | NC_000001.10:g.19200976dupA | OMIM Allelic Variant:606811.0001 | C2931835 239510 Deficiency of pyrroline-5-carboxylate reductase | | |
NM_170726.2(ALDH4A1):c.1055C>T (p.Ser352Leu) | 8659 | ALDH4A1 | Pathogenic | 137852937 | RCV000004210; | N | MedGen:C2931835,OMIM:239510,ORPHA:79101,SNOMED CT:124177001 | 1 | 19203992 | 19203992 | NM_170726.2:c.1055C>T | NP_733844.1:p.Ser352Leu | NC_000001.10:g.19203992G>A | OMIM Allelic Variant:606811.0002 | C2931835 239510 Deficiency of pyrroline-5-carboxylate reductase | | |
NM_170726.2(ALDH4A1):c.21delG (p.Leu8Serfs) | 8659 | ALDH4A1 | Pathogenic | 387906314 | RCV000004211; | N | MedGen:C2931835,OMIM:239510,ORPHA:79101,SNOMED CT:124177001 | 1 | 19228997 | 19228997 | NM_170726.2:c.21delG | NP_733844.1:p.Leu8Serfs | NC_000001.10:g.19228997delC | OMIM Allelic Variant:606811.0003 | C2931835 239510 Deficiency of pyrroline-5-carboxylate reductase | | |