RGD:28906204 Rat Genome Database

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Variant: RGD:28906204 -  Homo sapiens

RGD ID: 28906204
RS ID: rs1184489201
ClinVar ID: CV866823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,813,824
GRCh38 11 102,943,095
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002427.4:c.*1171C>A
NG_021404.1:g.17640C>A
NC_000011.10:g.102943095G>T
NC_000011.9:g.102813824G>T
More... 		01/13/2018 3 prime utr variant uncertain significance Early-onset regressive form of metaphyseal dysplasia; Missouri type of spondyloepimetaphyseal dysplasia; SEMD Missouri type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP13
Accession:NM_002427
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106505 CLINVAR
  RCV001106506 CLINVAR
dbSNP (RS) rs1184489201 CLINVAR
MedGen C0432226 CLINVAR
  C1865832 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 600108 CLINVAR
  602111 CLINVAR