RGD:11613363 Rat Genome Database

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Variant: RGD:11613363 -  Homo sapiens

RGD ID: 11613363
RS ID: rs72987505
ClinVar ID: CV324539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 102,822,734
GRCh38 11 102,952,005
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.8730C>T
NC_000011.10:g.102952005G>A
NC_000011.9:g.102822734G>A
NM_002427.4:c.799+7C>T
More... 		02/01/2023 intron variant benign|likely benign Early-onset regressive form of metaphyseal dysplasia; Missouri type of spondyloepimetaphyseal dysplasia; none provided; SEMD Missouri type
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000267459 CLINVAR
  RCV000322504 CLINVAR
  RCV000906599 CLINVAR
  RCV001196999 CLINVAR
dbSNP (RS) rs72987505 CLINVAR
MedGen C0432225 CLINVAR
  C0432226 CLINVAR
  C1865832 CLINVAR
  C3661900 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 250400 CLINVAR
  600108 CLINVAR
  602111 CLINVAR
SNOMED CT 254084008 CLINVAR