RGD:14705587 Rat Genome Database

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Variant: RGD:14705587 -  Homo sapiens

RGD ID: 14705587
RS ID: rs2272695
ClinVar ID: CV660390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANBA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 103,555,803
GRCh38 4 102,634,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012804.2:g.131349C>G
NC_000004.12:g.102634646G>C
NC_000004.11:g.103555803G>C
NM_005908.3:c.2415+142C>G
More... 		06/19/2018 intron variant benign none provided

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 Information

Database Acc Id Source(s)
ClinVar RCV000826239 CLINVAR
dbSNP (RS) rs2272695 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MANBA CLINVAR
OMIM 609489 CLINVAR