RGD:11631593 Rat Genome Database

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Variant: RGD:11631593 -  Homo sapiens

RGD ID: 11631593
RS ID: rs34103538
ClinVar ID: CV351226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCK1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 56,140,726
GRCh38 20 57,565,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008205.1:g.9590A>C
NC_000020.11:g.57565670A>C
NC_000020.10:g.56140726A>C
NP_002582.3:p.Ser579Arg
More... 		02/14/2019 missense variant benign|likely benign none provided; PCK1 DEFICIENCY, CYTOSOLIC; PEPCK DEFICIENCY, CYTOSOLIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCK1
Accession:XM_024451888
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTGRTMYVIPFSMGPLGSPLSKIGIELTDSPYVVASMRIMTRMGTPVLEAVGDGEFVKCLHSVGCPLPLQKPLVNNWPC
NPELTLIAHLPDRREIISFGSGYGGNSLLGKKCFALRMASRLAKEEGWLAEHMLILGITNPEGEKKYLAAAFPSACGKTN
LAMMNPSLPGWKVECVGDDIAWMKFDAQGHLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTNVAETSDGGVYWEG
IDEPLASGVTITSWKNKEWSSEDGEPCAHPNSRFCTPASQCPIIDAAWESPEGVPIEGIIFGGRRPAGVPLVYEALSWQH
GVFVGAAMRSEATAAAEHKGKIIMHDPFAMRPFFGYNFGKYLAHWLSMAQHPAAKLPKIFHVNWFRKDKEGKFLWPGFGE
NSRVLEWMFNRIDGKASTKLTPIGYIPKEDALNLKGLGHINMMELFRISKEFWEKEVEDIEKYLEDQVNADLPCEIEREI
LALKQRISQM*

Gene Symbol:PCK1
Accession:NM_002591
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 579
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPQLQNGLNLSAKVVQGSLDSLPQAVREFLENNAELCQPDHIHICDGSEEENGRLLGQMEEEGILRRLKKYDNCWLALT
DPRDVARIESKTVIVTQEQRDTVPIPKTGLSQLGRWMSEEDFEKAFNARFPGCMKGRTMYVIPFSMGPLGSPLSKIGIEL
TDSPYVVASMRIMTRMGTPVLEAVGDGEFVKCLHSVGCPLPLQKPLVNNWPCNPELTLIAHLPDRREIISFGSGYGGNSL
LGKKCFALRMASRLAKEEGWLAEHMLILGITNPEGEKKYLAAAFPSACGKTNLAMMNPSLPGWKVECVGDDIAWMKFDAQ
GHLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTNVAETSDGGVYWEGIDEPLASGVTITSWKNKEWSSEDGEPCA
HPNSRFCTPASQCPIIDAAWESPEGVPIEGIIFGGRRPAGVPLVYEALSWQHGVFVGAAMRSEATAAAEHKGKIIMHDPF
AMRPFFGYNFGKYLAHWLSMAQHPAAKLPKIFHVNWFRKDKEGKFLWPGFGENSRVLEWMFNRIDGKASTKLTPIGYIPK
EDALNLKGLGHINMMELFRISKEFWEKEVEDIEKYLEDQVNADLPCEIEREILALKQRISQM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000381354 CLINVAR
  RCV000949099 CLINVAR
dbSNP (RS) rs34103538 CLINVAR
MedGen C3661900 CLINVAR
  C5574905 CLINVAR
NCBI Gene PCK1 CLINVAR
OMIM 261680 CLINVAR
  614168 CLINVAR