RGD:156446995 Rat Genome Database

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Variant: RGD:156446995 -  Homo sapiens

RGD ID: 156446995
ClinVar ID: CV1948690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANBA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 103,557,171
GRCh38 4 102,636,014
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.2015-7T>C
NG_012804.2:g.129981T>C
NC_000004.12:g.102636014A>G
NC_000004.11:g.103557171A>G
 03/20/2022 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 RCV003118520 CLINVAR
MedGen C4048196 CLINVAR
NCBI Gene MANBA CLINVAR
OMIM 248510 CLINVAR
  609489 CLINVAR
SNOMED CT 238047006 CLINVAR