RGD:8601083 Rat Genome Database

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Variant: RGD:8601083 -  Homo sapiens

RGD ID: 8601083
RS ID: rs2293870
ClinVar ID: CV34177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HTRA1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 124,221,276
GRCh38 10 122,461,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011554.1:g.5236G>C
NC_000010.11:g.122461760G>C
NC_000010.10:g.124221276G>C
NM_002775.4:c.108G>C
More... 		05/04/2021 synonymous variant benign|likely benign adolescence / young adulthood|adolescent AllHighlyPenetrant; CARASIL; Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebrovascular disease with thin skin, alopecia, and disc disease; Degenerative disorder of macula; Maeda syndrome; none provided; Subcortical vascular encephalopathy, progressive
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: G to G (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCEPARCPPQPEHCEGGRARDACGCCEVCGAPEGAACGLQE
GPCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCGSDANTYANLCQLRAASRRSERLHRPPVIVLQRGACGQGQE
DPNSLRHKYNFIADVVEKIAPAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNKHRVKVELKNGATYEA
KIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTTQRGGKELGLRNSDMDYIQTD
AIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKIKKFLTESHDRQAKGKAITKKKYIGIRMMSLTSSKAKELKD
RHRDFPDVISGAYIIEVIPDTPAEAGGLKENDVIISINGQSVVSANDVSDVIKRESTLNMVVRRGNEDIMITVIPEEIDP
*
Variant Samples
Additional References at PubMed
PMID:20437615   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000020490 CLINVAR
  RCV000265972 CLINVAR
  RCV001515967 CLINVAR
  RCV001794460 CLINVAR
dbSNP (RS) rs2293870 CLINVAR
MedGen C0024437 CLINVAR
  C1838577 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARMS2 CLINVAR
  HTRA1 CLINVAR
OMIM 600142 CLINVAR
  602194 CLINVAR
  611313 CLINVAR
SNOMED CT 422338006 CLINVAR