RGD:11636325 Rat Genome Database

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Variant: RGD:11636325 -  Homo sapiens

RGD ID: 11636325
RS ID: rs150203792
ClinVar ID: CV273243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,816,439
GRCh38 11 102,945,710
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.15025G>A
NC_000011.10:g.102945710C>T
NC_000011.9:g.102816439C>T
NP_002418.1:p.Pro417=
More... 		05/09/2018 synonymous variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MMP13
Accession:NM_002427
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLREMQSFFGLEVT
GKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTPLNFTRLHDGI
ADIMISFGIKEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHSLGLDHSKDPGALM
FPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGETMIFKDRFFWRLHPQQVDAEL
FLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYDILEGYPKKISELGLPKEVKKISAAVHFEDTGKTLLFSGN
QVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQFEYSIWSNRIVRVMPANSILWC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000265469 CLINVAR
dbSNP (RS) rs150203792 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MMP13 CLINVAR
OMIM 600108 CLINVAR