RGD:11607328 Rat Genome Database

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Variant: RGD:11607328 -  Homo sapiens

RGD ID: 11607328
RS ID: rs145425594
ClinVar ID: CV317747
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 102,818,749
GRCh38 11 102,948,020
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.12715A>G
NC_000011.10:g.102948020T>C
NC_000011.9:g.102818749T>C
NP_002418.1:p.Asp361Gly
More... 		06/14/2016 missense 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:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLREMQSFFGLEVT
GKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTPLNFTRLHDGI
ADIMISFGIKEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHSLGLDHSKDPGALM
FPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGETMIFKDRFFWRLHPQQVDAEL
FLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYGILEGYPKKISELGLPKEVKKISAAVHFEDTGKTLLFSGN
QVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQFEYSIWSNRIVRVMPANSILWC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000342010 CLINVAR
  RCV000406196 CLINVAR
dbSNP (RS) rs145425594 CLINVAR
MedGen C0432226 CLINVAR
  C1865832 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 600108 CLINVAR
  602111 CLINVAR