RGD:13468477 Rat Genome Database

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Variant: RGD:13468477 -  Homo sapiens

RGD ID: 13468477
RS ID: rs201690866
ClinVar ID: CV469809
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAN2B1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,769,166
GRCh38 19 12,658,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.12769166G>A
NC_000019.10:g.12658352G>A
NM_000528.4:c.1110-8C>T
NM_000528.3:c.1110-8C>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity Alpha mannosidase B deficiency; Alpha-Mannosidosis; Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; Lysosomal alpha-D-mannosidase deficiency; Mannosidosis, alpha B lysosomal; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MAN2B1
Accession:XM_005259913
Location:INTRON

Gene Symbol:MAN2B1
Accession:NM_000528
Location:INTRON

Gene Symbol:MAN2B1
Accession:XM_047438841
Location:INTRON

Gene Symbol:MAN2B1
Accession:NM_001173498
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558708 CLINVAR
  RCV001252561 CLINVAR
  RCV003333994 CLINVAR
  RCV003900121 CLINVAR
dbSNP (RS) rs201690866 CLINVAR
MedGen C0024748 CLINVAR
  C3661900 CLINVAR
  C3714756 CLINVAR
NCBI Gene MAN2B1 CLINVAR
OMIM 248500 CLINVAR
  609458 CLINVAR
SNOMED CT 124466001 CLINVAR
  228156007 CLINVAR