16:68379649-68379650 - > T

Classification

Category 2

frameshift

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: PRMT7 synonym(s): PRMT7, ENSG00000132600

NM_001184824.1 [CDS]
hgvs_c: NM_001184824.1:c.850dupT
variant AA: X
variant codon: T
cDNA pos: 1058
CDS pos: 849
translation impact: frameshift
protein sequence: NP_001171753.1
AA pos: 283
hgvs_p: NP_001171753.1:p.Tyr284LeufsTer8

NM_019023.2 [CDS] Reportable
hgvs_c: NM_019023.2:c.1000dupT
variant AA: X
variant codon: T
cDNA pos: 1343
CDS pos: 999
translation impact: frameshift
protein sequence: NP_061896.1
AA pos: 333
hgvs_p: NP_061896.1:p.Tyr334LeufsTer8

Export Variant

Curation

Likely pathogenic