16:14029113-14029122 AAGGATAGCA > -

Classification

Category 2

frameshift

CMH MAF

1 / 14969 samples (0.00668%)
1 het., 0 hom. (100%)
1 / 29938 total alleles (0.00334%)

Genes

Consequences
gene: ERCC4 synonym(s): ERCC11, FANCQ, RAD1, XPF, ERCC4, ENSG00000175595

NM_005236.2 [CDS] Reportable
hgvs_c: NM_005236.2:c.1327_1336del
reference AA: KDSK
variant AA: X
reference codon: AAGGATAGCAaa
variant codon: aa
cDNA pos: 1333
CDS pos: 1324
translation impact: frameshift
protein sequence: NP_005227.1
AA pos: 442
hgvs_p: NP_005227.1:p.Asp443LeufsTer6
blosum: -1

Export Variant

Curation

Likely pathogenic