RGD:11665804 Rat Genome Database

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Variant: RGD:11665804 -  Homo sapiens

RGD ID: 11665804
RS ID: rs146698792
ClinVar ID: CV353514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GYS1  LOC127882577  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 49,473,863
GRCh38 19 48,970,606
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_012923.1:g.27748C>A
NP_002094.2:p.Ile583=
NC_000019.10:g.48970606G>T
NC_000019.9:g.49473863G>T
More... 		12/31/2019 non-coding transcript variant|synonymous variant benign|likely benign adult|all ages <1 / 1 000 000 AllHighlyPenetrant; BASAL GANGLIA DISEASE, ADULT-ONSET; Bonneau-Beaumont syndrome; Glycogen storage disease 0, muscle; GSD 0b; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia cataract syndrome; HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; Muscle glycogen synthase deficiency; Neurodegeneration with brain iron accumulation 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GYS1
Accession:NM_001161587
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELL
EAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNL
ENFNVDKEAGERQIYHRYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARI
QEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQA
VRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIG
LFNSSADRVKVIFHPEFLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIAD
PSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYE
PNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTS
GSKRNSVDTATSSSLSTPSEPLSPTSSLGEERN*

Gene Symbol:GYS1
Accession:NM_002103
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 583
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGDNYFLVGPYTEQGVRTQVELL
EAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVGASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTW
FLGEFLAQSEEKPHVVAHFHEWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYH
RYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARIQEFVRGHFYGHLDFNL
DKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKF
GRKLYESLLVGSLPDMNKMLDKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPE
FLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIADPSAYGIYILDRRFRSL
DDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPA
SVPPSPSLSRHSSPHQSEDEEDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLS
TPSEPLSPTSSLGEERN*

Gene Symbol:GYS1
Accession:NR_027763
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000295273 CLINVAR
  RCV000350253 CLINVAR
  RCV000424879 CLINVAR
  RCV000645191 CLINVAR
dbSNP (RS) rs146698792 CLINVAR
MedGen C1833213 CLINVAR
  C1853578 CLINVAR
  C1969054 CLINVAR
  CN169374 CLINVAR
NCBI Gene FTL CLINVAR
  GYS1 CLINVAR
OMIM 134790 CLINVAR
  138570 CLINVAR
  600886 CLINVAR
  606159 CLINVAR
  611556 CLINVAR