RGD:12846556 Rat Genome Database

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Variant: RGD:12846556 -  Homo sapiens

RGD ID: 12846556
RS ID: rs139561812
ClinVar ID: CV369750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBNL  PGAM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,104,841
GRCh38 7 44,065,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013016.1:g.5346A>G
NC_000007.14:g.44065242T>C
NC_000007.13:g.44104841T>C
NP_000281.2:p.Thr96=
More... 		11/24/2021 3 prime utr variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Dimauro disease; Glycogen storage disease due to phosphoglycerate mutase deficiency; GSD X; Myopathy due to phosphoglycerate mutase deficiency; none provided; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBNL
Accession:NM_001122956
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_014063
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:PGAM2
Accession:NM_000290
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLP
VVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTI
ARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
KAMEAVAAQGKAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967159 CLINVAR
  RCV001158893 CLINVAR
dbSNP (RS) rs139561812 CLINVAR
MedGen C0268149 CLINVAR
  C3661900 CLINVAR
NCBI Gene DBNL CLINVAR
  PGAM2 CLINVAR
OMIM 261670 CLINVAR
  610106 CLINVAR
  612931 CLINVAR
SNOMED CT 37666005 CLINVAR