RGD:38497853 Rat Genome Database

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Variant: RGD:38497853 -  Homo sapiens

RGD ID: 38497853
RS ID: rs373888957
ClinVar ID: CV957909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PMM2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 8,941,679
GRCh38 16 8,847,822
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.738C>G
NG_009209.1:g.55010C>G
NC_000016.10:g.8847822C>G
NC_000016.9:g.8941679C>G
More... 		09/15/2022 synonymous variant likely benign|uncertain significance 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: S to S (synonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK
LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVAD
LRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS*

Gene Symbol:PMM2
Accession:XM_047434215
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRK
EFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRICEL
LFS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001243450 CLINVAR
dbSNP (RS) rs373888957 CLINVAR
MedGen C0349653 CLINVAR
NCBI Gene PMM2 CLINVAR
OMIM 212065 CLINVAR
  601785 CLINVAR