RGD:15161866 Rat Genome Database

Variant: RGD:15161866 - Homo sapiens

RGD ID:

15161866

RS ID:

rs769340744

ClinVar ID:

CV687674

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RPS24

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	79,795,118
GRCh38	10	78,035,360

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001142285.2:c.12C>T NM_033022.4:c.12C>T NG_012633.1:g.6601C>T NC_000010.11:g.78035360C>T More...	02/28/2018	synonymous variant	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

Diamond-Blackfan anemia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Congenital hypoplastic anemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RPS24
Accession:	NM_001142285
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKMRELGLGVQALGRISQEERCTDVKNSKARE SRGVVWQVEVPGPWSVWTCGRLRRGCGKYLQVAVTWRKTENREQCCQACLLERALVRNGAFMSPASPAPAGSPHPVDGDL VLHLPEALSATLTLSPHIQAINKSFGPFFEIHQESSCFSPPSCLSGLGH*

Gene Symbol:	RPS24
Accession:	NM_001142284
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKK*

Gene Symbol:	RPS24
Accession:	NM_033022
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKK*

Gene Symbol:	RPS24
Accession:	NM_001142283
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKKK*

Gene Symbol:	RPS24
Accession:	NM_001142282
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKK*

Gene Symbol:	RPS24
Accession:	NM_001026
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	4

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLD YAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKPKE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001397895	CLINVAR
dbSNP (RS)	rs769340744	CLINVAR
MedGen	C1260899	CLINVAR
NCBI Gene	RPS24	CLINVAR
OMIM	105650	CLINVAR
	602412	CLINVAR
SNOMED CT	88854002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:15161866 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:15161866 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar