RGD:13786156 Rat Genome Database

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Variant: RGD:13786156 -  Homo sapiens

RGD ID: 13786156
RS ID: rs1555455456
ClinVar ID: CV485864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDIA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 44,046,024
GRCh38 15 43,753,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005313.4:c.170G>A
NC_000015.10:g.43753826G>A
NC_000015.9:g.44046024G>A
NP_005304.3:p.Cys57Tyr
More...
missense variant likely pathogenic Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GRP58
Accession:NM_005313
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLRRLALFPGVALLLAAARLAAASDVLELTDDNFESRISDTGSAGLMLVEFFAPWYGHCKRLAPEYEAAATRLKGIVPL
AKVDCTANTNTCNKYGVSGYPTLKIFRDGEEAGAYDGPRTADGIVSHLKKQAGPASVPLRTEEEFKKFISDKDASIVGFF
DDSFSEAHSEFLKAASNLRDNYRFAHTNVESLVNEYDDNGEGIILFRPSHLTNKFEDKTVAYTEQKMTSGKIKKFIQENI
FGICPHMTEDNKDLIQGKDLLIAYYDVDYEKNAKGSNYWRNRVMMVAKKFLDAGHKLNFAVASRKTFSHELSDFGLESTA
GEIPVVAIRTAKGEKFVMQEEFSRDGKALERFLQDYFDGNLKRYLKSEPIPESNDGPVKVVVAENFDEIVNNENKDVLIE
FYAPWCGHCKNLEPKYKELGEKLSKDPNIVIAKMDATANDVPSPYEVRGFPTIYFSPANKKLNPKKYEGGRELSDFISYL
QREATNPPVIQEEKPKKKKKAQEDL*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000677245 CLINVAR
dbSNP (RS) rs1555455456 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene PDIA3 CLINVAR
OMIM 602046 CLINVAR
SNOMED CT 228156007 CLINVAR