RGD:13499424 Rat Genome Database

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Variant: RGD:13499424 -  Homo sapiens

RGD ID: 13499424
RS ID: rs141926826
ClinVar ID: CV471347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VMA21  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 150,573,406
GRCh38 X 151,404,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_860t1:c.182A>G
LRG_860:g.12750A>G
NG_016761.1:g.12750A>G
NC_000023.11:g.151404934A>G
More... 		11/06/2020 missense variant benign Autophagic vacuolar myopathy; Vacuolar myopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VMA21
Accession:NM_001017980
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSSRDSYFYAAIVAVVAVHVVL
ALFVYVAWNEGSRQWREGKQD*

Gene Symbol:VMA21
Accession:NM_001363810
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGSPCGPQLSDRDADEDQCSREFRGRRSRRPPRRTMLRGKSRLNVEWLGYSPGLLLEHRPLLAGRTPRSHRRNESSLAS
TLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSSRDSYFYAAIVAVVAVHVVLALFVYVAWNEGSRQWREGKQD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000532808 CLINVAR
  RCV003905388 CLINVAR
dbSNP (RS) rs141926826 CLINVAR
MedGen C1839615 CLINVAR
NCBI Gene VMA21 CLINVAR
OMIM 300913 CLINVAR
  310440 CLINVAR