RGD:14393100 Rat Genome Database

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Variant: RGD:14393100 -  Homo sapiens

RGD ID: 14393100
RS ID: rs1565256477
ClinVar ID: CV551955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861318  MMP13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 102,826,131
GRCh38 11 102,955,402
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.5333T>C
NC_000011.10:g.102955402A>G
NC_000011.9:g.102826131A>G
p.M71T
More... 		08/28/2021 missense variant pathogenic|likely pathogenic 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:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLRETQSFFGLEVT
GKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTPLNFTRLHDGI
ADIMISFGIKEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHSLGLDHSKDPGALM
FPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGETMIFKDRFFWRLHPQQVDAEL
FLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYDILEGYPKKISELGLPKEVKKISAAVHFEDTGKTLLFSGN
QVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQFEYSIWSNRIVRVMPANSILWC*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30439533  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000757993 CLINVAR
  RCV001861874 CLINVAR
dbSNP (RS) rs1565256477 CLINVAR
MedGen C1865832 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC126861318 CLINVAR
  MMP13 CLINVAR
OMIM 600108 CLINVAR
  602111 CLINVAR