RGD:152984360 Rat Genome Database

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Variant: RGD:152984360 -  Homo sapiens

RGD ID: 152984360
RS ID: rs2145900873
ClinVar ID: CV1675351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 18,896,897
GRCh38 19 18,786,087
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.1367A>C
NG_007070.1:g.10218A>C
NC_000019.10:g.18786087T>G
NC_000019.9:g.18896897T>G
More... 		04/01/2022 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COMP
Accession:NM_000095
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 456
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAPEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002238718 CLINVAR
dbSNP (RS) rs2145900873 CLINVAR
MedGen C1838280 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 132400 CLINVAR
  600310 CLINVAR