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NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 1991
Accession:
VCV000001506.1
Variation ID:
1506
Description:
single nucleotide variant
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NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)

Allele ID
16545
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155295457 (GRCh38) GRCh38 UCSC
1: 155265248 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.155265248G>A
NC_000001.11:g.155295457G>A
NG_011677.1:g.10978C>T
... more HGVS
Protein change
R132C, R163C
Other names
-
Canonical SPDI
NC_000001.11:155295456:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA215073
UniProtKB: P30613#VAR_004033
OMIM: 609712.0002
dbSNP: rs118204083
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 May 1, 1991 RCV000001571.2
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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
132 155

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 01, 1991)
no assertion criteria provided
Method: literature only
PYRUVATE KINASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000021726.1
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
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Neubauer B Blood 1991 PMID: 2018831

Text-mined citations for rs118204083...

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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