RGD:28906983 Rat Genome Database

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Variant: RGD:28906983 -  Homo sapiens

RGD ID: 28906983
RS ID: rs550282678
ClinVar ID: CV880006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAMT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,397,119
GRCh38 19 1,397,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000156.6:c.*239C>T
NG_008283.1:g.18237G>A
NG_009785.1:g.9434C>T
NC_000019.10:g.1397120G>A
More... 		01/12/2018 3 prime utr variant uncertain significance CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Disease Annotations     Click to see Annotation Detail View


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 RCV001127325 CLINVAR
dbSNP (RS) rs550282678 CLINVAR
MedGen C0574080 CLINVAR
NCBI Gene GAMT CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR