RGD:11610739 Rat Genome Database

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Variant: RGD:11610739 -  Homo sapiens

RGD ID: 11610739
RS ID: rs367994618
ClinVar ID: CV306338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBNL  PGAM2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 44,102,532
GRCh38 7 44,062,933
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_000290.3:c.596-3T>C
NG_013016.1:g.7655T>C
NC_000007.14:g.44062933A>G
NC_000007.13:g.44102532A>G
More... 		01/26/2021 3 prime utr variant|intron variant benign|likely benign|uncertain significance <1 / 1 000 000 Dimauro disease; Glycogen storage disease due to phosphoglycerate mutase deficiency; GSD X; Myopathy due to phosphoglycerate mutase deficiency; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBNL
Accession:NM_014063
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001362723
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001284313
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001284315
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001122956
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001014436
Location:3UTRS;EXON

Gene Symbol:PGAM2
Accession:NM_000290
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000385818 CLINVAR
dbSNP (RS) rs367994618 CLINVAR
MedGen C0268149 CLINVAR
NCBI Gene DBNL CLINVAR
  PGAM2 CLINVAR
OMIM 261670 CLINVAR
  610106 CLINVAR
  612931 CLINVAR
SNOMED CT 37666005 CLINVAR