RGD:11610312 Rat Genome Database

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Variant: RGD:11610312 -  Homo sapiens

RGD ID: 11610312
RS ID: rs541204010
ClinVar ID: CV309626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HTRA1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 124,221,413
GRCh38 10 122,461,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011554.1:g.5373C>G
NC_000010.11:g.122461897C>G
NC_000010.10:g.124221413C>G
NP_002766.1:p.Pro82Arg
More... 		01/05/2021 missense variant uncertain significance Degenerative disorder of macula; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HTRA1
Accession:NM_002775
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCEPARCPPQPEHCEGGRARDACGCCEVCGAPEGAACGLQE
GRCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCGSDANTYANLCQLRAASRRSERLHRPPVIVLQRGACGQGQE
DPNSLRHKYNFIADVVEKIAPAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNKHRVKVELKNGATYEA
KIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTTQRGGKELGLRNSDMDYIQTD
AIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKIKKFLTESHDRQAKGKAITKKKYIGIRMMSLTSSKAKELKD
RHRDFPDVISGAYIIEVIPDTPAEAGGLKENDVIISINGQSVVSANDVSDVIKRESTLNMVVRRGNEDIMITVIPEEIDP
*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000379814 CLINVAR
  RCV001172043 CLINVAR
  RCV002520541 CLINVAR
  RCV003401285 CLINVAR
dbSNP (RS) rs541204010 CLINVAR
MedGen C0024437 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene HTRA1 CLINVAR
OMIM 602194 CLINVAR
SNOMED CT 422338006 CLINVAR