RGD:401764517 Rat Genome Database

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Variant: RGD:401764517 -  Homo sapiens

RGD ID: 401764517
ClinVar ID: CV2727971
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDIT4L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 101,109,279
GRCh38 4 100,188,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145244.4:c.137A>G
NC_000004.12:g.100188122T>C
NC_000004.11:g.101109279T>C
NM_145244.3:c.137A>G
More... 		05/09/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:REDD2
Accession:NM_145244
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVATGSLSSKNPASISELLDCGYHPESLLSDFDYWDYVVPEPNLNGVIFEESTCQNLVKMLENCLSKSKQTKLGCSKVLV
PEKLTQRIAQDVLRLSSTEPCGLRGCVMHVNLEIENVCKKLDRIVCDSSVVPTFELTLVFKQENCSWTSFRDFFFSRGRF
SSGFRRTLILSSGFRLVKKKLYSLIGTTVIEGS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003300927 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DDIT4L CLINVAR
OMIM 607730 CLINVAR