rs2145900849 Rat Genome Database

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Variant: rs2145900849 -  Homo sapiens

RGD ID: 152978591
RS ID: rs2145900849
ClinVar ID: CV1671791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,896,870
GRCh38 19 18,786,060
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000095.3:c.1394G>T
NG_007070.1:g.10245G>T
NC_000019.10:g.18786060C>A
NC_000019.9:g.18896870C>A
More... 		05/09/2022 missense variant likely pathogenic 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: G to V (nonsynonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQVDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002227890 CLINVAR
dbSNP (RS) rs2145900849 CLINVAR
MedGen C0410538 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 177170 CLINVAR
  600310 CLINVAR
SNOMED CT 22567005 CLINVAR