RGD:127317780 Rat Genome Database

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Variant: RGD:127317780 -  Homo sapiens

RGD ID: 127317780
RS ID: rs550819306
ClinVar ID: CV1148890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127891603  RPS19  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 42,373,817
GRCh38 19 41,869,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1144t1:c.405C>T
NM_001022.4:c.405C>T
NM_001321483.2:c.405C>T
NM_001321484.2:c.405C>T
More... 		03/04/2020 missense 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

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: A to A (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321484
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321485
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAGEELSFHSAAPVPPGWRWGWLHD
QDLWGTSEKRRHAQPLQPRLQECGPPGPPSPGGAENGGKGPRWRPQTDTSGTKRSGQNRWTGGSCQQEALEQTMLG*

Gene Symbol:RPS19
Accession:NM_001321483
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001483261 CLINVAR
dbSNP (RS) rs550819306 CLINVAR
MedGen C1260899 CLINVAR
NCBI Gene RPS19 CLINVAR
OMIM 105650 CLINVAR
  603474 CLINVAR
SNOMED CT 88854002 CLINVAR