RGD:405160755 Rat Genome Database

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Variant: RGD:405160755 -  Homo sapiens

RGD ID: 405160755
ClinVar ID: CV2993769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127883082  PMM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 8,891,793
GRCh38 16 8,797,936
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.54C>T
NG_133048.1:g.109C>T
NG_033146.1:g.4713G>A
NG_009209.1:g.5124C>T
More... 		03/04/2023 synonymous variant likely benign 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003621179 CLINVAR
MedGen C0349653 CLINVAR
NCBI Gene PMM2 CLINVAR
OMIM 212065 CLINVAR
  601785 CLINVAR