Classification
Category 1
CMH MAF
24 /
8745 samples
(0.274%)
24 het.,
0 hom.
(100%)
24 /
17490 total alleles
(0.137%)
Genes
gene: PKLR
synonym(s): PK1, PKL, PKR, PKRL, RPK, PKLR, ENSG00000143627
NM_000298.5
[CDS]
Reportable
hgvs_c: NM_000298.5:c.1529G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 1568
CDS pos: 1529
translation impact: non_synonymous
protein sequence:
NP_000289.1
AA pos: 510
hgvs_p: NP_000289.1:p.Arg510Gln
blosum: 1
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (1.0)
NM_181871.3
[CDS]
hgvs_c: NM_181871.3:c.1436G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 1550
CDS pos: 1436
translation impact: non_synonymous
protein sequence:
NP_870986.1
AA pos: 479
hgvs_p: NP_870986.1:p.Arg479Gln
blosum: 1
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (0.998)
dbSNP
rs113403872
GMAF = 0.0001997
TOPMED_MAF = 0.00054153924566768
ClinVar
clinvar_disease = Pyruvate kinase deficiency of red cells
1511
clinvar_significance = Pathogenic
clinvar_submission_scv = SCV000280891.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000930,0.000227,0.000692
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10398 |
0.0192% |
| America/Latino |
0 / 11572 |
0% |
| East Asian |
0 / 8650 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
47 / 66708 |
0.0705% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
49 / 121360 |
0.0404% |
COSMIC
COSMIC Mutation ID = COSM675770
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 24022 |
0.0291% |
| America/Latino |
1 / 34420 |
0.00291% |
| Ashkenazi Jewish |
0 / 10152 |
0% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
1 / 25788 |
0.00388% |
| Non-Finnish |
92 / 126696 |
0.0726% |
| Other |
3 / 6466 |
0.0464% |
| South Asian |
0 / 30782 |
0% |
| Total MAF |
104 / 277194 |
0.0375% |
Export Variant