RGD:15040431 Rat Genome Database

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Variant: RGD:15040431 -  Homo sapiens

RGD ID: 15040431
RS ID: rs1600892115
ClinVar ID: CV680131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RYR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 39,008,331
GRCh38 19 38,517,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.38517691G>A
NM_000540.3:c.10018G>A
NP_001036188.1:p.Val3340Met
NM_001042723.2:c.10018G>A
More... 		06/28/2019 missense variant likely pathogenic Arthrogryposis multiplex congenita; Congenital arthromyodysplasia; Congenital multiple arthrogryposis; Fetal akinesia sequence; Fibrous ankylosis of multiple joints; Guerin-Stern syndrome; Guérin-Stern syndrome; Lethal Pena-Shokeir 1 syndrome; Myodystrophia fetalis deformans; Otto syndrome; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I; Rocher-Sheldon syndrome; Rossi syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RYR1
Accession:NM_001042723
Location:INTRON

Gene Symbol:RYR1
Accession:XM_011527205
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723317
Location:INTRON

Gene Symbol:RYR1
Accession:XM_006723319
Location:INTRON

Gene Symbol:RYR1
Accession:XM_047439202
Location:INTRON

Gene Symbol:RYR1
Accession:NM_000540
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31680123  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000855480 CLINVAR
dbSNP (RS) rs1600892115 CLINVAR
MedGen C1276035 CLINVAR
NCBI Gene RYR1 CLINVAR
OMIM 180901 CLINVAR
  208150 CLINVAR
SNOMED CT 401138005 CLINVAR