RGD:11607819 Rat Genome Database

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Variant: RGD:11607819 -  Homo sapiens

RGD ID: 11607819
RS ID: rs61756062
ClinVar ID: CV311167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBNL  PGAM2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,104,788
GRCh38 7 44,065,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_013016.1:g.5399T>G
NC_000007.14:g.44065189A>C
NC_000007.13:g.44104788A>C
NP_000281.2:p.Ile114Ser
More... 		07/14/2017 3 prime utr variant|missense variant benign|likely benign|conflicting interpretations of pathogenicity <1 / 1 000 000 AllHighlyPenetrant; 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_001284315
Location:3UTRS;EXON

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

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

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

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

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

Gene Symbol:PGAM2
Accession:NM_000290
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLP
VVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKTWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTI
ARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
KAMEAVAAQGKAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000347390 CLINVAR
  RCV000434075 CLINVAR
  RCV000675937 CLINVAR
dbSNP (RS) rs61756062 CLINVAR
MedGen C0268149 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DBNL CLINVAR
  LOC129998342 CLINVAR
  PGAM2 CLINVAR
OMIM 261670 CLINVAR
  610106 CLINVAR
  612931 CLINVAR
SNOMED CT 37666005 CLINVAR