rs2124857932 Rat Genome Database

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Variant: rs2124857932 -  Homo sapiens

RGD ID: 151741657
RS ID: rs2124857932
ClinVar ID: CV1335507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARF1  LOC126806039  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 228,285,310
GRCh38 1 228,097,609
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001024228.2:c.278A>G
NM_001658.4:c.278A>G
NC_000001.11:g.228097609A>G
NC_000001.10:g.228285310A>G
More... 		03/12/2022 missense variant likely pathogenic|conflicting interpretations of pathogenicity
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARF1
Accession:NM_001658
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRH
YFQNTQGLIFVVGSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCA
TSGDGLYEGLDWLSNQLRNQK*

Gene Symbol:ARF1
Accession:NM_001024227
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRH
YFQNTQGLIFVVGSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCA
TSGDGLYEGLDWLSNQLRNQK*

Gene Symbol:ARF1
Accession:NM_001024226
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRH
YFQNTQGLIFVVGSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCA
TSGDGLYEGLDWLSNQLRNQK*

Gene Symbol:ARF1
Accession:NM_001024228
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRH
YFQNTQGLIFVVGSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCA
TSGDGLYEGLDWLSNQLRNQK*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001845035 CLINVAR
dbSNP (RS) rs2124857932 CLINVAR
MedGen C4748602 CLINVAR
NCBI Gene ARF1 CLINVAR
  LOC126806039 CLINVAR
OMIM 103180 CLINVAR
  618185 CLINVAR