RGD:155741217 Rat Genome Database

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Variant: RGD:155741217 -  Homo sapiens

RGD ID: 155741217
ClinVar ID: CV1779870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,363,056
GRCh38 1 228,175,355
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001310327.2:c.334C>T
NM_001010867.4:c.913C>T
NG_042231.1:g.14548C>T
NC_000001.11:g.228175355C>T
More... 		09/30/2022 nonsense likely pathogenic|uncertain significance 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: Q to * (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPL
PSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVW
AVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASG*TVGKFRAGQGNVGLA
LLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK*

Gene Symbol:IBA57
Accession:NM_001310327
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMG
VIRKRLFPVRFLDPLPTSGITPGATVLTASG*TVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPT
VSK*
Variant Samples
Additional References at PubMed
PMID:23462291   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002302474 CLINVAR
  RCV003098020 CLINVAR
MedGen C3809165 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR