rs386834236 Rat Genome Database

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Variant: rs386834236 -  Homo sapiens

RGD ID: 8557854
RS ID: rs386834236
ClinVar ID: CV19066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 78,078,341
GRCh38 17 80,104,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009822.1:g.7987T>G
NC_000017.11:g.80104542T>G
NC_000017.10:g.78078341T>G
LRG_673:g.7987T>G
More... 		10/01/2024 intron|intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity adolescent|antenatal|variable 1-9 / 1 000 000 ACID ALPHA-GLUCOSIDASE DEFICIENCY; Acid maltase deficiency disease; Aglucosidase alfa; Alpha-1,4-glucosidase deficiency; Amylopectinosis; Andersen disease; Brancher deficiency; Cardiomegalia glycogenica diffusa; Cirrhosis, familial, with deposition of abnormal glycogen; Deficiency of alpha-glucosidase; Deficiency of lysosomal alpha-glucosidase; GAA-related condition; GBE1 DEFICIENCY; Glucosidase acid-1,4-alpha deficiency; Glycogen branching enzyme deficiency; Glycogen storage disease due to glycogen branching enzyme deficiency; Glycogen storage disease type 2; Glycogen storage disease type 4; Glycogen Storage Disease Type II (Pompe Disease); Glycogenosis 4; GLYCOGENOSIS IV; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD 4; GSD II; GSD IV; none provided; POMPE DISEASE; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Myopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:GAA
Accession:XM_047435719
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NM_001406741
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NM_000152
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NM_001079803
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NM_001079804
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NM_001406742
Location:5UTRS;INTRON

Gene Symbol:GAA
Accession:NR_134848
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:2510307   PMID:7668832   PMID:7717400   PMID:7881425   PMID:8558570   PMID:8990003   PMID:11071489   PMID:14695532   PMID:15986226   PMID:16133732   PMID:16433701   PMID:16531044  
PMID:16702877   PMID:16917947   PMID:17210890   PMID:17616415   PMID:17643989   PMID:17723315   PMID:18425781   PMID:18607768   PMID:19588081   PMID:20301438   PMID:20350966   PMID:20559845  
PMID:21109266   PMID:21228398   PMID:21439876   PMID:21550241   PMID:21967859   PMID:22595200   PMID:22613277   PMID:22676651   PMID:22975760   PMID:23417379   PMID:24008051   PMID:24150945  
PMID:24158270   PMID:24245577   PMID:24510945   PMID:24590251   PMID:24844452   PMID:25103075   PMID:25356970   PMID:25741868   PMID:25846667   PMID:26231297   PMID:26800218   PMID:27170567  
PMID:27189384   PMID:27460347   PMID:27649523   PMID:27708273   PMID:28032299   PMID:28492532   PMID:28694071   PMID:28951071   PMID:29181627   PMID:29326002   PMID:30275481   PMID:30314719  
PMID:30564623   PMID:30655185   PMID:30827497   PMID:31086307   PMID:31676142   PMID:31980526   PMID:32012848   PMID:32071926   PMID:32528171   PMID:32721234   PMID:32860008   PMID:34906502  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004242 CLINVAR
  RCV000055770 CLINVAR
  RCV000153285 CLINVAR
  RCV000626740 CLINVAR
  RCV002225068 CLINVAR
  RCV002288463 CLINVAR
  RCV002321471 CLINVAR
  RCV003415646 CLINVAR
dbSNP (RS) rs386834236 CLINVAR
MedGen C0017921 CLINVAR
  C0017923 CLINVAR
  C0026848 CLINVAR
  C0342753 CLINVAR
  C3661900 CLINVAR
  C4016981 CLINVAR
  CN230736 CLINVAR
NCBI Gene GAA CLINVAR
OMIM 232300 CLINVAR
  232500 CLINVAR
  606800 CLINVAR
OMIM Allele 606800.0006 CLINVAR
SNOMED CT 11179002 CLINVAR
  237967002 CLINVAR