RGD:39457080 Rat Genome Database

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Variant: RGD:39457080 -  Homo sapiens

RGD ID: 39457080
RS ID: rs1447794153
ClinVar ID: CV965628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127891603  RPS19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 42,373,805
GRCh38 19 41,869,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001308413.1:p.Leu131=
NM_001321485.2:c.406G>A
NM_001022.3:c.393G>A
NP_001308414.1:p.Gly136Arg
More... 		12/04/2020 missense variant likely benign|uncertain significance 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:RPS19
Accession:NM_001022
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321484
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321483
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321485
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAGEELSFHSAAPVPPGWRWGWLHD
QDLWGTSEKRRHAQPLQPRLQECGPPGPPSPGGAENGGKGPRWRPQTDTSGTKRSRQNRRTGGSCQQEALEQTMLG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001255174 CLINVAR
  RCV001435349 CLINVAR
dbSNP (RS) rs1447794153 CLINVAR
MedGen C1260899 CLINVAR
  C2676137 CLINVAR
NCBI Gene RPS19 CLINVAR
OMIM 105650 CLINVAR
  603474 CLINVAR
SNOMED CT 88854002 CLINVAR