RGD:11629725 Rat Genome Database

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Variant: RGD:11629725 -  Homo sapiens

RGD ID: 11629725
RS ID: rs202028563
ClinVar ID: CV347052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX9  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 70,119,918
GRCh38 17 72,123,777
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012490.1:g.7758C>G
NC_000017.11:g.72123777C>G
NC_000017.10:g.70119918C>G
NP_000337.1:p.Pro307Arg
More... 		11/01/2022 missense variant benign|likely benign|uncertain significance antenatal 1-9 / 1 000 000 Campomelic Dysplasia; CMPD1/SRA1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOX9
Accession:NM_000346
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQV
LKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVRATHGQVTYTGSYG
ISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTE
QLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001879672 CLINVAR
dbSNP (RS) rs202028563 CLINVAR
MedGen C1861922 CLINVAR
NCBI Gene SOX9 CLINVAR
OMIM 114290 CLINVAR
  608160 CLINVAR
SNOMED CT 74928006 CLINVAR