RGD:8556523 Rat Genome Database

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Variant: RGD:8556523 -  Homo sapiens

RGD ID: 8556523
RS ID: rs1581819081
ClinVar ID: CV16928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 49,404,228
GRCh38 6 49,436,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000255.4:c.1957-892C>A
NG_007100.1:g.31625C>A
NC_000006.12:g.49436515G>T
NC_000006.11:g.49404228G>T
 06/26/2015 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMUT
Accession:NM_000255
Location:INTRON

Gene Symbol:MMUT
Accession:XM_005249143
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15781192   PMID:17966092  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001966 CLINVAR
dbSNP (RS) rs1581819081 CLINVAR
MedGen C1855115 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 609058 CLINVAR
OMIM Allele 609058.0013 CLINVAR