RGD:12739739 Rat Genome Database

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Variant: RGD:12739739 -  Homo sapiens

RGD ID: 12739739
RS ID: rs1057516943
ClinVar ID: CV358377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127883081  PMM2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 8,891,766
GRCh38 16 8,797,909
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_009209.1:g.5097C>A
NC_000016.10:g.8797909C>A
NC_000016.9:g.8891766C>A
NP_000294.1:p.Cys9Ter
More... 		06/06/2016 nonsense likely pathogenic infancy 1-9 / 100 000 Carbohydrate-deficient glycoprotein syndrome type 1A; Carbohydrate-deficient glycoprotein syndrome type 1A (formerly); CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia; CDG 1A; CDG Ia; Congenital disorder of glycosylation type 1A; Congenital disorder of glycosylation, type Ia; Jaeken syndrome; Phosphomannomutase 2 deficiency; PMM2-CDG (CDG-Ia)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PMM2
Accession:NM_000303
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGPAL*LFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK
LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVAD
LRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS*

Gene Symbol:PMM2
Accession:XM_047434215
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000410306 CLINVAR
dbSNP (RS) rs1057516943 CLINVAR
MedGen C0349653 CLINVAR
NCBI Gene PMM2 CLINVAR
OMIM 212065 CLINVAR
  601785 CLINVAR