RGD:13496174 Rat Genome Database

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Variant: RGD:13496174 -  Homo sapiens

RGD ID: 13496174
RS ID: rs1553121290
ClinVar ID: CV448401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGM1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 64,102,045
GRCh38 1 63,636,374
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016966.1:g.48099T>A
NC_000001.11:g.63636374T>A
NC_000001.10:g.64102045T>A
NP_002624.2:p.Ser338Arg
More... 		04/02/2023 missense variant likely pathogenic|uncertain significance CDG It; Congenital disorder of glycosylation type 1t; Glycogen storage disease XIV; GSD XIV; none provided; 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: S to R (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMK
SGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTRGALDRVASATKIALYETPT
GWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEG
ANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLY
IDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT*

Gene Symbol:PGM1
Accession:NM_002633
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAA
NGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVC
PDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEE
LGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSI
PYFQQTGVRGFARSMPTRGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLS
ILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPV
DGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTV
IT*

Gene Symbol:PGM1
Accession:NM_001172818
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDFEEWISGTYRKMEEGPLPLLTFATAPYHDQKPGTSGLRKKTYYFEEKPCYLENFIQSIFFSIDLKDRQGSSLVVGGD
GRYFNKSAIETIVQMAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEA
ITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRI
DAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGF
FVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTRGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTG
SDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSAN
DKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISI
ALKVSQLQERTGRTAPTVIT*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:33342467  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000537665 CLINVAR
  RCV003324765 CLINVAR
dbSNP (RS) rs1553121290 CLINVAR
MedGen C2752015 CLINVAR
  C3661900 CLINVAR
NCBI Gene PGM1 CLINVAR
OMIM 171900 CLINVAR
  612934 CLINVAR
  614921 CLINVAR