Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1998
Accession:
VCV000001514.1
Variation ID:
1514
Description:
single nucleotide variant
Help

NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)

Allele ID
16553
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155295555 (GRCh38) GRCh38 UCSC
1: 155265346 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P30613:p.Ser130Tyr
NC_000001.10:g.155265346G>T
NM_181871.4:c.296C>A NP_870986.1:p.Ser99Tyr missense
... more HGVS
Protein change
S130Y, S99Y
Other names
-
Canonical SPDI
NC_000001.11:155295554:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA215081
UniProtKB: P30613#VAR_011443
OMIM: 609712.0010
dbSNP: rs118204089
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 1998 RCV000001578.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 1998)
no assertion criteria provided
Method: literature only
PYRUVATE KINASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000021734.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry). Cohen-Solal M British journal of haematology 1998 PMID: 9886305

Text-mined citations for rs118204089...

Help
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 Nov 27, 2021