RGD:152130476 Rat Genome Database

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Variant: RGD:152130476 -  Homo sapiens

RGD ID: 152130476
RS ID: rs2100983821
ClinVar ID: CV1519732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 64,097,323
GRCh38 1 63,631,652
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172819.2:c.-35-5C>T
NM_002633.3:c.557-5C>T
NM_001172818.1:c.611-5C>T
NG_016966.1:g.43377C>T
More... 		10/13/2021 intron variant likely benign CDG It; Congenital disorder of glycosylation type 1t; Glycogen storage disease XIV; GSD XIV; PGM1 DEFICIENCY; PHOSPHOGLUCOMUTASE 1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_001172819
Location:5UTRS;INTRON

Gene Symbol:PGM1
Accession:NM_001172818
Location:INTRON

Gene Symbol:PGM1
Accession:NM_002633
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002155462 CLINVAR
dbSNP (RS) rs2100983821 CLINVAR
MedGen C2752015 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR
  612934 CLINVAR
  614921 CLINVAR