RGD:26889089 Rat Genome Database

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Variant: RGD:26889089 -  Homo sapiens

RGD ID: 26889089
RS ID: rs1591156543
ClinVar ID: CV851792
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,820,957
GRCh38 11 102,950,228
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021404.1:g.10507G>A
NC_000011.10:g.102950228C>T
NC_000011.9:g.102820957C>T
NM_002427.3:c.800-1G>A
More... 		08/12/2021 splice acceptor variant likely pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP13
Accession:NM_002427
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001057941 CLINVAR
dbSNP (RS) rs1591156543 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 600108 CLINVAR