RGD:11666387 Rat Genome Database

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Variant: RGD:11666387 -  Homo sapiens

RGD ID: 11666387
RS ID: rs266810
ClinVar ID: CV342879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 1,397,082
GRCh38 19 1,397,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008283.1:g.18200G>A
NG_009785.1:g.9471C>T
NC_000019.10:g.1397083G>A
NC_000019.9:g.1397082G>A
More... 		06/19/2018 3 prime utr variant benign|likely benign all ages|childhood 1-9 / 100 000|<1 / 1 000 000 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; Complex 1 mitochondrial respiratory chain deficiency; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; NADH coenzyme Q reductase deficiency; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy

Variant Details
Variant Transcripts
Gene Symbol:GAMT
Accession:NM_000156
Location:3UTRS;EXON

Gene Symbol:GAMT
Accession:NM_138924
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340079 CLINVAR
  RCV000369560 CLINVAR
  RCV000397956 CLINVAR
  RCV001709600 CLINVAR
dbSNP (RS) rs266810 CLINVAR
MedGen C0023264 CLINVAR
  C0574080 CLINVAR
  C1838979 CLINVAR
  C3661900 CLINVAR
NCBI Gene GAMT CLINVAR
  NDUFS7 CLINVAR
OMIM 256000 CLINVAR
  601240 CLINVAR
  601825 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR
  29570005 CLINVAR