rs1555791556 Rat Genome Database

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Variant: rs1555791556 -  Homo sapiens

RGD ID: 13435693
RS ID: rs1555791556
ClinVar ID: CV432471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,898,309
GRCh38 19 18,787,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007070.1:g.8806G>T
NC_000019.10:g.18787500C>A
NC_000019.9:g.18898309C>A
NP_000086.2:p.Asp376Tyr
More... 		08/03/2017 missense variant likely pathogenic 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: D to Y (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRT
GLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDG
VPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIYGDRIRNQADNCPRVPNSDQKDSDG
DGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREI
VQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAV
KSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505823 CLINVAR
dbSNP (RS) rs1555791556 CLINVAR
MedGen C1838280 CLINVAR
NCBI Gene COMP CLINVAR
OMIM 132400 CLINVAR
  177170 CLINVAR
  600310 CLINVAR
SNOMED CT 22567005 CLINVAR