RGD:28868645 Rat Genome Database

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Variant: RGD:28868645 -  Homo sapiens

RGD ID: 28868645
RS ID: rs377325293
ClinVar ID: CV881939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SARS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 39,405,996
GRCh38 19 38,915,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.38915356T>C
NM_017827.4:c.*250A>G
NM_017827.3:c.*250A>G
NM_001145901.2:c.*250A>G
More... 		01/13/2018 3 prime utr variant uncertain significance HUPRA SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
Disease Annotations     Click to see Annotation Detail View
HUPRA Syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SARS2
Accession:NM_001145901
Location:3UTRS;EXON

Gene Symbol:SARS2
Accession:NM_017827
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001130113 CLINVAR
dbSNP (RS) rs377325293 CLINVAR
MedGen C3151209 CLINVAR
NCBI Gene SARS2 CLINVAR
OMIM 612804 CLINVAR
  613845 CLINVAR
SNOMED CT 776416004 CLINVAR