rs34467947 Rat Genome Database

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Variant: rs34467947 -  Homo sapiens

RGD ID: 11551304
RS ID: rs34467947
ClinVar ID: CV256840
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 18,895,865
GRCh38 19 18,785,055
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_007070.1:g.11250G>A
NC_000019.10:g.18785055C>T
NC_000019.9:g.18895865C>T
NP_000086.2:p.Thr585=
More... 		12/02/2020 synonymous variant benign|likely benign infancy 1-9 / 100 000 AllHighlyPenetrant; Carpal tunnel syndrome 2; none provided; Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COMP
Accession:NM_000095
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 585
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252866 CLINVAR
  RCV000308597 CLINVAR
  RCV000363252 CLINVAR
  RCV001517626 CLINVAR
  RCV002494695 CLINVAR
dbSNP (RS) rs34467947 CLINVAR
MedGen C0410538 CLINVAR
  C1838280 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 132400 CLINVAR
  177170 CLINVAR
  600310 CLINVAR
  619161 CLINVAR
SNOMED CT 22567005 CLINVAR