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NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 2004
Accession:
VCV000001516.1
Variation ID:
1516
Description:
single nucleotide variant
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NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)

Allele ID
16555
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155293295 (GRCh38) GRCh38 UCSC
1: 155263086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1136t1:c.1318G>T LRG_1136p1:p.Glu440Ter
LRG_1136:g.13140G>T
NC_000001.10:g.155263086C>A
... more HGVS
Protein change
E440*, E409*
Other names
1318G-T
Canonical SPDI
NC_000001.11:155293294:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
OMIM: 609712.0012
dbSNP: rs771145576
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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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 Nov 1, 2004 RCV000001580.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PKLR - - GRCh38
GRCh38
GRCh37
137 160

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2004)
no assertion criteria provided
Method: literature only
PYRUVATE KINASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000021736.1
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
PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency. Sedano IB British journal of haematology 2004 PMID: 15491302

Text-mined citations for rs771145576...

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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 Oct 08, 2021