1:244217615-244217615 C > T

Classification

Category 3

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.512C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 581
CDS pos: 512
translation impact: non_synonymous
protein sequence: NP_001265125.1
AA pos: 171
hgvs_p: NP_001265125.1:p.Pro171Leu
blosum: -3
SIFT: tolerated (0.31)
PolyPhen2: benign (0.0)

NM_006352.4 [CDS]
hgvs_c: NM_006352.4:c.512C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 1109
CDS pos: 512
translation impact: non_synonymous
protein sequence: NP_006343.2
AA pos: 171
hgvs_p: NP_006343.2:p.Pro171Leu
blosum: -3
SIFT: tolerated (0.31)
PolyPhen2: benign (0.0)

NM_205768.2 [CDS] Reportable
hgvs_c: NM_205768.2:c.539C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 712
CDS pos: 539
translation impact: non_synonymous
protein sequence: NP_991331.1
AA pos: 180
hgvs_p: NP_991331.1:p.Pro180Leu
blosum: -3
SIFT: tolerated (0.27)
PolyPhen2: benign (0.001)

dbSNP

rs865884317

Export Variant

Curation

Uncertain Significance