RGD:11590454 Rat Genome Database

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Variant: RGD:11590454 -  Homo sapiens

RGD ID: 11590454
RS ID: rs10909
ClinVar ID: CV281038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 64,125,544
GRCh38 1 63,659,873
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_016966.1:g.71598C>T
NC_000001.11:g.63659873C>T
NC_000001.10:g.64125544C>T
NM_001172818.1:c.*198C>T
More... 		06/23/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 Carbohydrate-deficient glycoprotein syndrome; CDG It; Congenital disorder of glycosylation type 1t; Congenital disorders of glycosylation; Glycogen storage disease XIV; GSD XIV; none provided; PGM1 DEFICIENCY; PHOSPHOGLUCOMUTASE 1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_001172818
Location:3UTRS;EXON

Gene Symbol:PGM1
Accession:NM_002633
Location:3UTRS;EXON

Gene Symbol:PGM1
Accession:NM_001172819
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000319415 CLINVAR
  RCV000373952 CLINVAR
  RCV001711890 CLINVAR
dbSNP (RS) rs10909 CLINVAR
MedGen C0282577 CLINVAR
  C2752015 CLINVAR
  C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR
  612934 CLINVAR
  614921 CLINVAR
SNOMED CT 238049009 CLINVAR