RGD:156231054 Rat Genome Database

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Variant: RGD:156231054 -  Homo sapiens

RGD ID: 156231054
ClinVar ID: CV2085271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANBA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 103,611,945
GRCh38 4 102,690,788
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005908.4:c.674-17T>C
NG_012804.2:g.75207T>C
NC_000004.12:g.102690788A>G
NC_000004.11:g.103611945A>G
 09/14/2022 intron variant likely benign Beta-mannosidase deficiency; Lysosomal beta-mannosidase deficiency; Mannosidosis, beta A, lysosomal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MANBA
Accession:NM_005908
Location:INTRON

Gene Symbol:MANBA
Accession:XM_047415692
Location:INTRON

Gene Symbol:MANBA
Accession:XM_047415693
Location:INTRON

Gene Symbol:MANBA
Accession:XM_047415694
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002876238 CLINVAR
MedGen C4048196 CLINVAR
NCBI Gene MANBA CLINVAR
OMIM 248510 CLINVAR
  609489 CLINVAR
SNOMED CT 238047006 CLINVAR