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NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2006
Accession:
VCV000009952.1
Variation ID:
9952
Description:
single nucleotide variant
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NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)

Allele ID
24991
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq21.1
Genomic location
X: 78113767 (GRCh38) GRCh38 UCSC
X: 77369264 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.77369264T>A
NC_000023.11:g.78113767T>A
NM_000291.4:c.140T>A MANE Select NP_000282.1:p.Ile47Asn missense
NG_008862.1:g.14599T>A
Protein change
I46N, I47N
Other names
PGK Barcelona
Canonical SPDI
NC_000023.11:78113766:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA120832
OMIM: 311800.0011
dbSNP: rs137852536
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2006 RCV000010630.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PGK1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
85 228

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2006)
no assertion criteria provided
Method: literature only
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA
Allele origin: germline
OMIM
Accession: SCV000030856.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. Noel N British journal of haematology 2006 PMID: 16412025

Text-mined citations for rs137852536...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020