RGD:8601066 Rat Genome Database

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Variant: RGD:8601066 -  Homo sapiens

RGD ID: 8601066
RS ID: rs80338679
ClinVar ID: CV34061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAN2B1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 12,760,917
GRCh38 19 12,650,103
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_008318.1:g.21675G>A
NC_000019.10:g.12650103C>T
NC_000019.9:g.12760917C>T
NM_000528.2:c.2165+1G>A
More... 		09/05/2021 splice donor variant|splice-5 pathogenic childhood|neonatal/infancy 1-9 / 1 000 000 Alpha mannosidase B deficiency; alpha-Mannosidosis; Lysosomal alpha-D-mannosidase deficiency; Mannosidosis, alpha B lysosomal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAN2B1
Accession:XM_047438841
Location:INTRON

Gene Symbol:MAN2B1
Accession:NM_001173498
Location:INTRON

Gene Symbol:MAN2B1
Accession:NM_000528
Location:INTRON

Gene Symbol:MAN2B1
Accession:XM_005259913
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9915946   PMID:16199547   PMID:20301570   PMID:22161967   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000020366 CLINVAR
dbSNP (RS) rs80338679 CLINVAR
MedGen C0024748 CLINVAR
NCBI Gene MAN2B1 CLINVAR
OMIM 248500 CLINVAR
  609458 CLINVAR
SNOMED CT 124466001 CLINVAR