RGD:126745870 Rat Genome Database

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Variant: RGD:126745870 -  Homo sapiens

RGD ID: 126745870
RS ID: rs557010306
ClinVar ID: CV976053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REN  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 204,131,175
GRCh38 1 204,162,047
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.215C>A
NG_012122.1:g.9291C>A
NC_000001.11:g.204162047G>T
NC_000001.10:g.204131175G>T
More... 		03/21/2019 missense variant uncertain significance
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: T to N (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEWSQPMKRLTLGNNTSSVILTN
YMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQ
DIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGG
QIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFD
YVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRI
GFALAR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001328255 CLINVAR
dbSNP (RS) rs557010306 CLINVAR
MedGen C0027726 CLINVAR
NCBI Gene REN CLINVAR
OMIM 179820 CLINVAR
SNOMED CT 52254009 CLINVAR