RGD:12834613 Rat Genome Database

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Variant: RGD:12834613 -  Homo sapiens

RGD ID: 12834613
RS ID: rs762720562
ClinVar ID: CV364876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  LOC127271831  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,353,679
GRCh38 1 228,165,978
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.5171C>T
NC_000001.11:g.228165978C>T
NC_000001.10:g.228353679C>T
NM_001010867.2:c.162C>T
More... 		05/17/2016 synonymous variant likely benign AllHighlyPenetrant; 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: D to D (synonymous)
Amino Acid Position: 54
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 RCV000420251 CLINVAR
  RCV002062780 CLINVAR
  RCV003922784 CLINVAR
dbSNP (RS) rs762720562 CLINVAR
MedGen C3809165 CLINVAR
  CN169374 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR