RGD:13522760 Rat Genome Database

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Variant: RGD:13522760 -  Homo sapiens

RGD ID: 13522760
RS ID: rs749575769
ClinVar ID: CV490563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 70,120,210
GRCh38 17 72,124,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012490.1:g.8050C>T
NC_000017.11:g.72124069C>T
NC_000017.10:g.70120210C>T
NP_000337.1:p.Pro404=
More... 		01/16/2024 synonymous variant likely benign|uncertain significance Campomelic Dysplasia; CMPD1/SRA1; none provided
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 P (synonymous)
Amino Acid Position: 404
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQV
LKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYG
ISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTE
QLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000592150 CLINVAR
  RCV003497857 CLINVAR
dbSNP (RS) rs749575769 CLINVAR
MedGen C1861922 CLINVAR
  C3661900 CLINVAR
NCBI Gene SOX9 CLINVAR
OMIM 114290 CLINVAR
  608160 CLINVAR
SNOMED CT 74928006 CLINVAR