RGD:8598197 Rat Genome Database

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Variant: RGD:8598197 -  Homo sapiens

RGD ID: 8598197
RS ID: rs137852656
ClinVar ID: CV24234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 18,898,393
GRCh38 19 18,787,584
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.8722T>C
NC_000019.10:g.18787584A>G
NC_000019.9:g.18898393A>G
NP_000086.2:p.Cys348Arg
More... 		03/03/2023 missense|missense variant pathogenic neonatal/infancy 1-9 / 100 000 none provided; Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COMP
Accession:NM_000095
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDARDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:11746045   PMID:21922596   PMID:24595329   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009773 CLINVAR
  RCV003555993 CLINVAR
dbSNP (RS) rs137852656 CLINVAR
MedGen C0410538 CLINVAR
  C3661900 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 177170 CLINVAR
  600310 CLINVAR
OMIM Allele 600310.0014 CLINVAR
SNOMED CT 22567005 CLINVAR