RGD:151859786 Rat Genome Database

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Variant: RGD:151859786 -  Homo sapiens

RGD ID: 151859786
RS ID: rs747394265
ClinVar ID: CV1373956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 64,102,017
GRCh38 1 63,636,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001166289.1:p.Arg347His
NM_001172818.1:c.1040G>A
NM_001172819.2:c.395G>A
NM_002633.3:c.986G>A
More... 		10/12/2021 missense variant uncertain significance CDG It; Congenital disorder of glycosylation type 1t; Glycogen storage disease XIV; GSD XIV; PGM1 DEFICIENCY; PHOSPHOGLUCOMUTASE 1 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PGM1
Accession:NM_001172819
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMK
SGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVHGFARSMPTSGALDRVASATKIALYETPT
GWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEG
ANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLY
IDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT*

Gene Symbol:PGM1
Accession:NM_002633
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAA
NGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVC
PDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSI
PYFQQTGVHGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLS
ILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTV
IT*

Gene Symbol:PGM1
Accession:NM_001172818
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDFEEWISGTYRKMEEGPLPLLTFATAPYHDQKPGTSGLRKKTYYFEEKPCYLENFIQSIFFSIDLKDRQGSSLVVGGD
GRYFNKSAIETIVQMAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEA
ITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRI
DAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGF
FVNPSDSVAVIAANIFSIPYFQQTGVHGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTG
SDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSAN
DKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISI
ALKVSQLQERTGRTAPTVIT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001938392 CLINVAR
dbSNP (RS) rs747394265 CLINVAR
MedGen C2752015 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR
  612934 CLINVAR
  614921 CLINVAR