RGD:15148625 Rat Genome Database

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Variant: RGD:15148625 -  Homo sapiens

RGD ID: 15148625
RS ID: rs144023823
ClinVar ID: CV728687
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,637,635
GRCh38 20 46,008,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004994.3:c.70C>T
NG_011468.1:g.5089C>T
NC_000020.11:g.46008996C>T
NC_000020.10:g.44637635C>T
More... 		02/26/2019 missense variant benign|likely benign Metaphyseal anadysplasia 2, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP9
Accession:NM_004994
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWQPLVLVLLVLGCCFAAPRQCQSTLVLFPGDLRTNLTDRQLAEEYLYRYGYTRVAEMRGESKSLGPALLLLQKQLSL
PETGELDSATLKAMRTPRCGVPDLGRFQTFEGDLKWHHHNITYWIQNYSEDLPRAVIDDAFARAFALWSAVTPLTFTRVY
SRDADIVIQFGVAEHGDGYPFDGKDGLLAHAFPPGPGIQGDAHFDDDELWSLGKGVVVPTRFGNADGAACHFPFIFEGRS
YSACTTDGRSDGLPWCSTTANYDTDDRFGFCPSERLYTQDGNADGKPCQFPFIFQGQSYSACTTDGRSDGYRWCATTANY
DRDKLFGFCPTRADSTVMGGNSAGELCVFPFTFLGKEYSTCTSEGRGDGRLWCATTSNFDSDKKWGFCPDQGYSLFLVAA
HEFGHALGLDHSSVPEALMYPMYRFTEGPPLHKDDVNGIRHLYGPRPEPEPRPPTTTTPQPTAPPTVCPTGPPTVHPSER
PTAGPTGPPSAGPTGPPTAGPSTATTVPLSPVDDACNVNIFDAIAEIGNQLYLFKDGKYWRFSEGRGSRPQGPFLIADKW
PALPRKLDSVFEERLSKKLFFFSGRQVWVYTGASVLGPRRLDKLGLGADVAQVTGALRSGRGKMLLFSGRRLWRFDVKAQ
MVDPRSASEVDRMFPGVPLDTHDVFQYREKAYFCQDRFYWRVSSRSELNQVDQVGYVTYDILQCPED*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000878997 CLINVAR
  RCV001142867 CLINVAR
  RCV003975501 CLINVAR
dbSNP (RS) rs144023823 CLINVAR
MedGen C2751322 CLINVAR
  C3661900 CLINVAR
NCBI Gene MMP9 CLINVAR
OMIM 120361 CLINVAR
  613073 CLINVAR