RGD:156077731 Rat Genome Database

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Variant: RGD:156077731 -  Homo sapiens

RGD ID: 156077731
ClinVar ID: CV2281684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARF5  LOC105375489  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 127,231,097
GRCh38 7 127,591,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001662.4:c.411C>A
NC_000007.14:g.127591043C>A
NC_000007.13:g.127231097C>A
NM_001662.3:c.411C>A
More... 		07/05/2022 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:ARF5
Accession:NM_001662
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLTVSALFSRIFGKKQMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNICFTVWDVGGQDKIRPLWRH
YFQNTQGLIFVVDSNDRERVQESADELQKMLQEDELRDAVLLVFANKQDMPNAMPVRELTDKLGLQHLRSRTWYVQATCA
TQGTGLYDGLDWLSHELSKR*

Gene Symbol:LOC105375489
Accession:XR_007060512
Location:INTRON;NON-CODING

Gene Symbol:LOC105375489
Accession:XR_007060513
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004147837 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARF5 CLINVAR
OMIM 103188 CLINVAR