RGD:15117068 Rat Genome Database

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Variant: RGD:15117068 -  Homo sapiens

RGD ID: 15117068
RS ID: rs151246531
ClinVar ID: CV684197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPS24  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 79,797,050
GRCh38 10 78,037,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1145t3:c.378T>G
LRG_1145p2:p.Gly126=
LRG_1145p3:p.Gly126=
NM_001142282.2:c.378T>G
More... 		12/24/2021 synonymous variant benign|likely benign Aase syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Congenital hypoplastic anemia; Erythrogenesis imperfecta; Red cell aplasia, pure hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPS24
Accession:NM_001142283
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKKK*

Gene Symbol:RPS24
Accession:NM_001142285
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKMRELGLGVQALGRISQEERCTDVKNSKARE
SRGVVWQVEVPGPWSVWTCGRLRRGCGKYLQVAVTWRKTENREQCCQACLLERALVRNGAFMSPASPAPAGSPHPVDGDL
VLHLPEALSATLTLSPHIQAINKSFGPFFEIHQESSCFSPPSCLSGLGH*

Gene Symbol:RPS24
Accession:NM_001142284
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKK*

Gene Symbol:RPS24
Accession:NM_001142282
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKK*

Gene Symbol:RPS24
Accession:NM_033022
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKK*

Gene Symbol:RPS24
Accession:NM_001026
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD
YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKPKE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000861061 CLINVAR
  RCV002495215 CLINVAR
dbSNP (RS) rs151246531 CLINVAR
MedGen C1260899 CLINVAR
  C1857719 CLINVAR
NCBI Gene RPS24 CLINVAR
OMIM 105650 CLINVAR
  602412 CLINVAR
  610629 CLINVAR
SNOMED CT 88854002 CLINVAR