RGD:28879320 Rat Genome Database

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Variant: RGD:28879320 -  Homo sapiens

RGD ID: 28879320
RS ID: rs1658147747
ClinVar ID: CV863333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 204,125,395
GRCh38 1 204,156,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000537.4:c.871G>A
NG_012122.1:g.15071G>A
NC_000001.11:g.204156267C>T
NC_000001.10:g.204125395C>T
More... 		04/27/2017 missense variant uncertain significance EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE; Primitive renal tubule syndrome; Renotubular dysgenesis; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:REN
Accession:NM_000537
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTN
YMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQ
DIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALIDTGASYISGSTSSIEKLMEALGAKKRLFD
YVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRI
GFALAR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001096190 CLINVAR
  RCV001096191 CLINVAR
dbSNP (RS) rs1658147747 CLINVAR
MedGen C0266313 CLINVAR
  C2751310 CLINVAR
NCBI Gene REN CLINVAR
OMIM 179820 CLINVAR
  267430 CLINVAR
  613092 CLINVAR
SNOMED CT 702397002 CLINVAR