RGD:150480378 Rat Genome Database

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Variant: RGD:150480378 -  Homo sapiens

RGD ID: 150480378
RS ID: rs227277
ClinVar ID: CV1221958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANBA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 103,594,938
GRCh38 4 102,673,781
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.1112+138C>T
NG_012804.2:g.92214C>T
NC_000004.12:g.102673781G>A
NC_000004.11:g.103594938G>A
 06/28/2018 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 RCV001616754 CLINVAR
dbSNP (RS) rs227277 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MANBA CLINVAR
OMIM 609489 CLINVAR