RGD:8563498 Rat Genome Database

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Variant: RGD:8563498 -  Homo sapiens

RGD ID: 8563498
RS ID: rs121917741
ClinVar ID: CV28162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 204,131,245
GRCh38 1 204,162,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012122.1:g.9221C>T
NC_000001.11:g.204162117G>A
NC_000001.10:g.204131245G>A
NP_000528.1:p.Arg49Ter
More... 		02/17/2022 nonsense pathogenic EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE; Primitive renal tubule syndrome; Renal tubular dysgenesis of genetic origin; 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: R to * (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKE*GVDMARLGPEWSQPMKRLTLGNTTSSVILTN
YMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQ
DIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFD
YVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRI
GFALAR*
Variant Samples
Additional References at PubMed
PMID:16116425   PMID:25741868   PMID:33532864  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014003 CLINVAR
  RCV001281274 CLINVAR
  RCV002496353 CLINVAR
dbSNP (RS) rs121917741 CLINVAR
MedGen C0266313 CLINVAR
  C2751310 CLINVAR
NCBI Gene REN CLINVAR
OMIM 179820 CLINVAR
  267430 CLINVAR
  613092 CLINVAR
OMIM Allele 179820.0002 CLINVAR
SNOMED CT 702397002 CLINVAR