RGD:127250985 Rat Genome Database

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Variant: RGD:127250985 -  Homo sapiens

RGD ID: 127250985
RS ID: rs777164338
ClinVar ID: CV1054870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 64,102,019
GRCh38 1 63,636,348
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172818.1:c.1042G>C
NM_001172819.2:c.397G>C
NM_002633.3:c.988G>C
NG_016966.1:g.48073G>C
More... 		09/06/2022 missense variant pathogenic|likely pathogenic 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_002633
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAA
NGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVC
PDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSI
PYFQQTGVRRFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLS
ILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTV
IT*

Gene Symbol:PGM1
Accession:NM_001172818
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDFEEWISGTYRKMEEGPLPLLTFATAPYHDQKPGTSGLRKKTYYFEEKPCYLENFIQSIFFSIDLKDRQGSSLVVGGD
GRYFNKSAIETIVQMAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEA
ITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRI
DAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGF
FVNPSDSVAVIAANIFSIPYFQQTGVRRFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTG
SDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSAN
DKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISI
ALKVSQLQERTGRTAPTVIT*

Gene Symbol:PGM1
Accession:NM_001172819
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMK
SGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRRFARSMPTSGALDRVASATKIALYETPT
GWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEG
ANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLY
IDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT*
Variant Samples
Additional References at PubMed
PMID:24499211   PMID:25288802   PMID:25741868   PMID:28492532   PMID:33473337  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001378469 CLINVAR
dbSNP (RS) rs777164338 CLINVAR
MedGen C2752015 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR
  612934 CLINVAR
  614921 CLINVAR