RGD:11614668 Rat Genome Database

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Variant: RGD:11614668 -  Homo sapiens

RGD ID: 11614668
RS ID: rs145243532
ClinVar ID: CV324545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 102,825,189
GRCh38 11 102,954,460
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.6275A>C
NC_000011.10:g.102954460T>G
NC_000011.9:g.102825189T>G
NP_002418.1:p.Lys170Thr
More...
11/03/2021 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 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:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLREMQSFFGLEVT
GKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTPLNFTRLHDGI
ADIMISFGITEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHSLGLDHSKDPGALM
FPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGETMIFKDRFFWRLHPQQVDAEL
FLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYDILEGYPKKISELGLPKEVKKISAAVHFEDTGKTLLFSGN
QVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQFEYSIWSNRIVRVMPANSILWC*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000278733 CLINVAR
  RCV000352370 CLINVAR
  RCV001548674 CLINVAR
dbSNP (RS) rs145243532 CLINVAR
MedGen C0432226 CLINVAR
  C1865832 CLINVAR
  C3661900 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 600108 CLINVAR
  602111 CLINVAR