RGD:12833650 Rat Genome Database

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Variant: RGD:12833650 -  Homo sapiens

RGD ID: 12833650
RS ID: rs150249937
ClinVar ID: CV376489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SARS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 39,412,045
GRCh38 19 38,921,405
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031865.1:g.14492C>T
NC_000019.10:g.38921405G>A
NC_000019.9:g.39412045G>A
NP_060297.1:p.Val192=
More... 		08/09/2021 synonymous variant benign|likely benign AllHighlyPenetrant; HUPRA SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; none provided
Disease Annotations     Click to see Annotation Detail View
HUPRA Syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SARS2
Accession:NM_001145901
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDIERFCACPEEAAHALELRKGE
LRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRALLANQDSGEVQQVRLDPGAGSIFGPTFLPFPGQLSLLVEAQ
LEEQFYLQALKLPNQTHPDVPVGDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALL
QHGLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTAEVGLAGYFMDHTVAFRDL
PVRMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPGLEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGL
PAYRKFDIEAWMPGRGRFGEVTSASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVP
PALQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS*

Gene Symbol:SARS2
Accession:NM_017827
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDIERFCACPEEAAHALELRKGE
LRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRALLANQDSGEVQQDPKYQGLRARGREIRKELVHLYPREAQLE
EQFYLQALKLPNQTHPDVPVGDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALLQH
GLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTAEVGLAGYFMDHTVAFRDLPV
RMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPGLEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGLPA
YRKFDIEAWMPGRGRFGEVTSASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVPPA
LQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418913 CLINVAR
  RCV002480286 CLINVAR
  RCV002524797 CLINVAR
dbSNP (RS) rs150249937 CLINVAR
MedGen C3151209 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SARS2 CLINVAR
OMIM 612804 CLINVAR
  613845 CLINVAR
SNOMED CT 776416004 CLINVAR