RGD:156103300 Rat Genome Database

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Variant: RGD:156103300 -  Homo sapiens

RGD ID: 156103300
ClinVar ID: CV2038388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  LOC127271831  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,353,856
GRCh38 1 228,166,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001010867.4:c.339C>T
NG_042231.1:g.5348C>T
NG_093682.1:g.867C>T
NC_000001.11:g.228166155C>T
More... 		07/27/2022 synonymous variant likely benign Hereditary spastic paraplegia 74; 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: Y to Y (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPL
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 RCV002761402 CLINVAR
  RCV003961128 CLINVAR
MedGen C3809165 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR