RGD:12840679 Rat Genome Database

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Variant: RGD:12840679 -  Homo sapiens

RGD ID: 12840679
RS ID: rs55873785
ClinVar ID: CV364874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  LOC127271831  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 228,353,651
GRCh38 1 228,165,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042231.1:g.5143G>C
NC_000001.11:g.228165950G>C
NC_000001.10:g.228353651G>C
NM_001010867.2:c.134G>C
More... 		08/10/2021 missense variant benign AllHighlyPenetrant; Hereditary spastic paraplegia 74; none provided; Spastic paraplegia 74, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IBA57
Accession:NM_001010867
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAAAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPL
PSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVW
AVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLA
LLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK*

Gene Symbol:IBA57
Accession:NM_001310327
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431176 CLINVAR
  RCV000676864 CLINVAR
  RCV001515779 CLINVAR
  RCV001702372 CLINVAR
  RCV001702643 CLINVAR
dbSNP (RS) rs55873785 CLINVAR
MedGen C3661900 CLINVAR
  C3809165 CLINVAR
  C5568837 CLINVAR
  CN169374 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR