1:205041651-205041651 A > -

Classification

Category 3

frameshift

GUS

CMH MAF

6 / 13144 samples (0.0456%)
6 het., 0 hom. (100%)
6 / 26288 total alleles (0.0228%)

Genes

Consequences
gene: CNTN2 synonym(s): AXT, TAG-1, TAX, TAX1, CNTN2, ENSG00000184144

NM_005076.3 [CDS] Reportable
hgvs_c: NM_005076.3:c.2773del
reference AA: S
variant AA: X
reference codon: tcA
variant codon: tc
cDNA pos: 3041
CDS pos: 2772
translation impact: frameshift
protein sequence: NP_005067.1
AA pos: 924
hgvs_p: NP_005067.1:p.Ser925AlafsTer33
blosum: 0

Export Variant

Curation

Uncertain Significance