RGD:9832094 Rat Genome Database

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Variant: RGD:9832094 -  Homo sapiens

RGD ID: 9832094
RS ID: rs587776448
ClinVar ID: CV165898
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: HTRA1  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 10 124,221,294
GRCh38 10 122,461,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_002775.5:c.126del
NG_011554.1:g.5254del
NM_002775.4:c.126delG
NP_002766.1:p.Glu42fs
More... 		02/18/2015 frameshift variant pathogenic|not provided adolescence / young adulthood|adolescent|infancy 1-9 / 1 000 000 CARASIL; Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebrovascular disease with thin skin, alopecia, and disc disease; Maeda syndrome; Subcortical vascular encephalopathy, progressive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HTRA1
Accession:NM_002775
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCDPARCPPQPEHCEGGRARDACGCCEVCGAPEGAACGLQE
GPCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCGSDANTYANLCQLRAASRRSERLHRPPVIVLQRGACGQGQE
DPNSLRHKYNFIADVVEKIAPAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNKHRVKVELKNGATYEA
KIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTTQRGGKELGLRNSDMDYIQTD
AIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKIKKFLTESHDRQAKGKAITKKKYIGIRMMSLTSSKAKELKD
RHRDFPDVISGAYIIEVIPDTPAEAGGLKENDVIISINGQSVVSANDVSDVIKRESTLNMVVRRGNEDIMITVIPEEIDP
*
Variant Samples
Additional References at PubMed
PMID:24500651  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000157766 CLINVAR
dbSNP (RS) rs587776448 CLINVAR
MedGen C1838577 CLINVAR
NCBI Gene HTRA1 CLINVAR
OMIM 600142 CLINVAR
  602194 CLINVAR
OMIM Allele 602194.0008 CLINVAR