Classification

non_synonymous

CMH MAF

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

Genes

Consequences

gene: ZBTB18 synonym(s): C2H2-171, RP58, TAZ-1, ZNF238, ZBTB18, ENSG00000179456

NM_001278196.1 [CDS]
hgvs_c: NM_001278196.1:c.280A>T
reference AA: I
variant AA: F
reference codon: Att
variant codon: Ttt
cDNA pos: 349
CDS pos: 280
translation impact: non_synonymous
protein sequence: NP_001265125.1
AA pos: 94
hgvs_p: NP_001265125.1:p.Ile94Phe
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: benign (0.206)

NM_006352.4 [CDS]
hgvs_c: NM_006352.4:c.280A>T
reference AA: I
variant AA: F
reference codon: Att
variant codon: Ttt
cDNA pos: 877
CDS pos: 280
translation impact: non_synonymous
protein sequence: NP_006343.2
AA pos: 94
hgvs_p: NP_006343.2:p.Ile94Phe
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: benign (0.206)

NM_205768.2 [CDS] Reportable
hgvs_c: NM_205768.2:c.307A>T
reference AA: I
variant AA: F
reference codon: Att
variant codon: Ttt
cDNA pos: 480
CDS pos: 307
translation impact: non_synonymous
protein sequence: NP_991331.1
AA pos: 103
hgvs_p: NP_991331.1:p.Ile103Phe
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.754)

dbSNP

rs1057520130

ClinVar

377090
clinvar_significance = Uncertain_significance

Export Variant

Curation