RGD:127326111 Rat Genome Database

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Variant: RGD:127326111 -  Homo sapiens

RGD ID: 127326111
RS ID: rs144069838
ClinVar ID: CV1148889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPS19  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 42,373,120
GRCh38 19 41,869,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001022.3:c.192G>C
LRG_1144t1:c.192G>C
NM_001022.4:c.192G>C
NM_001321483.2:c.192G>C
More... 		08/30/2020 missense variant likely benign|uncertain significance Aase syndrome; AllHighlyPenetrant; 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: 64
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: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*

Gene Symbol:RPS19
Accession:NM_001321485
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAGEELSFHSAAPLPPGWRWGWLHD
QDLWGTSEKRRHAQPLQPRLQECGPPGPPSPGGAENGGKGPRWRPQTDTSGTKRSGQNRRTGGSCQQEALEQTMLG*

Gene Symbol:RPS19
Accession:NM_001321483
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYG
GRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001506179 CLINVAR
  RCV001821800 CLINVAR
dbSNP (RS) rs144069838 CLINVAR
MedGen C1260899 CLINVAR
  CN169374 CLINVAR
NCBI Gene RPS19 CLINVAR
OMIM 105650 CLINVAR
  603474 CLINVAR
SNOMED CT 88854002 CLINVAR