RGD:13532835 Rat Genome Database

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Variant: RGD:13532835 -  Homo sapiens

RGD ID: 13532835
RS ID: rs1425166755
ClinVar ID: CV512315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108021846  SOX9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 70,117,863
GRCh38 17 72,121,722
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.70117863G>A
NG_012490.1:g.5703G>A
NP_000337.1:p.Ala111Thr
NC_000017.11:g.72121722G>A
More... 		09/30/2015 missense variant pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOX9
Accession:NM_000346
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQV
LKGYDWTLVPMPVRVNGSSKNKPHVKRPMNTFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYG
ISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTE
QLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000624587 CLINVAR
  RCV003424192 CLINVAR
dbSNP (RS) rs1425166755 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene 108021846 CLINVAR
  SOX9 CLINVAR
OMIM 608160 CLINVAR