17:8021162-8021169 CGATCCAG > -

Classification

Category 2

frameshift

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
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

Export Variant

Curation

Likely pathogenic