RGD:8561052 Rat Genome Database

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Variant: RGD:8561052 -  Homo sapiens

RGD ID: 8561052
RS ID: rs121909500
ClinVar ID: CV24485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,822,846
GRCh38 11 102,952,117
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.8618C>A
NC_000011.10:g.102952117G>T
NC_000011.9:g.102822846G>T
NP_002418.1:p.His232Asn
More... 		03/19/2015 missense|missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMP13
Accession:NM_002427
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLREMQSFFGLEVT
GKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTPLNFTRLHDGI
ADIMISFGIKEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHSLGLDNSKDPGALM
FPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGETMIFKDRFFWRLHPQQVDAEL
FLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYDILEGYPKKISELGLPKEVKKISAAVHFEDTGKTLLFSGN
QVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQFEYSIWSNRIVRVMPANSILWC*
Variant Samples
Additional References at PubMed
PMID:19615667   PMID:24648384  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010053 CLINVAR
dbSNP (RS) rs121909500 CLINVAR
MedGen C0432225 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 250400 CLINVAR
  600108 CLINVAR
OMIM Allele 600108.0004 CLINVAR
SNOMED CT 254084008 CLINVAR