RGD:11664837 Rat Genome Database

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Variant: RGD:11664837 -  Homo sapiens

RGD ID: 11664837
RS ID: rs886054249
ClinVar ID: CV342883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062945  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,401,553
GRCh38 19 1,401,554
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_009785.1:g.5000C>T
NC_000019.10:g.1401554G>A
NC_000019.9:g.1401553G>A
NM_138924.2:c.-78C>T
More... 		10/05/2021 5 prime utr variant uncertain significance childhood <1 / 1 000 000 CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000392623 CLINVAR
dbSNP (RS) rs886054249 CLINVAR
MedGen C0574080 CLINVAR
NCBI Gene GAMT CLINVAR
  LOC130062945 CLINVAR
OMIM 601240 CLINVAR
  612736 CLINVAR
SNOMED CT 124239003 CLINVAR