RGD:127252279 Rat Genome Database

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Variant: RGD:127252279 -  Homo sapiens

RGD ID: 127252279
RS ID: rs142869401
ClinVar ID: CV1092148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GYG1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 148,741,998
GRCh38 3 149,024,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184721.2:c.609-2549A>C
NM_001184720.2:c.767A>C
NM_004130.4:c.767A>C
NG_027677.1:g.37804A>C
More... 		02/25/2022 intron variant likely benign|uncertain significance GLYCOGENIN DEFICIENCY; GSD XV; none provided; Polyglucosan body myopathy type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GYG1
Accession:XM_017006276
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPWLPGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSE
AHDPNMTHPEFLILWWNIFTTTVLPLLQQFGLVKDTCSYVNVEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQAD
YMGADSFDNIKRKLDTYLQ*

Gene Symbol:GYG1
Accession:NM_001184720
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPEL
GVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFD
GGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNM
THPEFLILWWNIFTTTVLPLLQQFGLVKDTCSYVNVEDVSGAISHLSLGEIPAMAQPFVSSEERKERWEQGQADYMGADS
FDNIKRKLDTYLQ*

Gene Symbol:GYG1
Accession:XM_017006275
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVY
QPSVETYNQLLHLASEQGSFDGGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKP
WNYTYDPKTKSVKSEAHDPNMTHPEFLILWWNIFTTTVLPLLQQFGLVKDTCSYVNVEDVSGAISHLSLGEIPAMAQPFV
SSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ*

Gene Symbol:GYG1
Accession:NM_004130
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRLVVLATPQVSDSMRKVLETVFDEVIMVDVLDSGDSAHLTLMKRPEL
GVTLTKLHCWSLTQYSKCVFMDADTLVLANIDDLFDREELSAAPDPGWPDCFNSGVFVYQPSVETYNQLLHLASEQGSFD
GGDQGILNTFFSSWATTDIRKHLPFIYNLSSISIYSYLPAFKVFGASAKVVHFLGRVKPWNYTYDPKTKSVKSEAHDPNM
THPEFLILWWNIFTTTVLPLLQQFGLVKDTCSYVNVLSDLVYTLAFSCGFCRKEDVSGAISHLSLGEIPAMAQPFVSSEE
RKERWEQGQADYMGADSFDNIKRKLDTYLQ*

Gene Symbol:GYG1
Accession:NM_001184721
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001436754 CLINVAR
  RCV003481109 CLINVAR
dbSNP (RS) rs142869401 CLINVAR
MedGen C3150754 CLINVAR
  C3661900 CLINVAR
NCBI Gene GYG1 CLINVAR
OMIM 603942 CLINVAR
  613507 CLINVAR
  616199 CLINVAR