RGD:156161046 Rat Genome Database

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Variant: RGD:156161046 -  Homo sapiens

RGD ID: 156161046
ClinVar ID: CV1906910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 228,362,836
GRCh38 1 228,175,135
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.114G>A
NM_001010867.4:c.693G>A
NG_042231.1:g.14328G>A
NC_000001.11:g.228175135G>A
More... 		09/17/2022 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: G to G (synonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPL
PSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVW
AVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVA
LPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLA
LLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK*

Gene Symbol:IBA57
Accession:NM_001310327
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMG
VIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPT
VSK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003082895 CLINVAR
MedGen C3809165 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR