RGD:155726726 Rat Genome Database

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Variant: RGD:155726726 -  Homo sapiens

RGD ID: 155726726
ClinVar ID: CV1783876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PMM2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 8,900,226
GRCh38 16 8,806,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000303.3:c.309T>A
NG_009209.1:g.13557T>A
NC_000016.10:g.8806369T>A
NC_000016.9:g.8900226T>A
More... 		12/16/2021 nonsense likely pathogenic 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: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK
LLCRQNIQSHLGEALIQDLINY*LSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVAD
LRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS*

Gene Symbol:PMM2
Accession:XM_047434215
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNIQSHLGEALIQDLINY*LSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRK
EFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICEL
LFS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002307320 CLINVAR
MedGen C0349653 CLINVAR
NCBI Gene PMM2 CLINVAR
OMIM 212065 CLINVAR
  601785 CLINVAR