Classification
Category 2
frameshift
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: ALOXE3
synonym(s): ARCI3, E-LOX, eLOX3, ALOXE3, ENSG00000179148
NM_001165960.1
[CDS]
hgvs_c: NM_001165960.1:c.536_543del
reference AA: PGS
variant AA: X
reference codon: cCTGGATCG
variant codon: c
cDNA pos: 674
CDS pos: 536
splice impact: five_prime_exonic
translation impact: frameshift
protein sequence:
NP_001159432.1
AA pos: 179
hgvs_p: NP_001159432.1:p.Pro179ArgfsTer14
blosum: -2
NM_021628.2
[CDS]
Reportable
hgvs_c: NM_021628.2:c.140_147del
reference AA: PGS
variant AA: X
reference codon: cCTGGATCG
variant codon: c
cDNA pos: 510
CDS pos: 140
translation impact: frameshift
protein sequence:
NP_067641.2
AA pos: 47
hgvs_p: NP_067641.2:p.Pro47ArgfsTer14
blosum: -2
dbSNP
rs1425236161
TOPMED_MAF = 0.00000796381243628
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