RGD:13491579 Rat Genome Database

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Variant: RGD:13491579 -  Homo sapiens

RGD ID: 13491579
RS ID: rs200319163
ClinVar ID: CV447752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 228,363,090
GRCh38 1 228,175,389
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.14582A>C
NC_000001.11:g.228175389A>C
NC_000001.10:g.228363090A>C
NP_001010867.1:p.Asn316Thr
More... 		11/10/2017 missense 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: N to T (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPL
PSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVW
AVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGTVGLA
LLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK*

Gene Symbol:IBA57
Accession:NM_001310327
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMG
VIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGTVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPT
VSK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001424671 CLINVAR
  RCV003935512 CLINVAR
dbSNP (RS) rs200319163 CLINVAR
MedGen C3809165 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR