RGD:151830760 Rat Genome Database

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Variant: RGD:151830760 -  Homo sapiens

RGD ID: 151830760
RS ID: rs2145903433
ClinVar ID: CV1405488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 18,899,280
GRCh38 19 18,788,471
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.806A>G
NG_007070.1:g.7835A>G
NC_000019.10:g.18788471T>C
NC_000019.9:g.18899280T>C
More... 		10/14/2021 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COMP
Accession:NM_000095
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRGTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:24595329   PMID:28044000   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001901791 CLINVAR
dbSNP (RS) rs2145903433 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 600310 CLINVAR