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%)

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

OMIM
OMIM:133520: ERCC4 (Autosomal recessive inheritance)
OMIM:615272: Fanconi anemia, complementation group Q
OMIM:610965: XFE progeroid syndrome
OMIM:278760: Xeroderma pigmentosum, group F
OMIM:278760: Xeroderma pigmentosum, type F/Cockayne syndrome

NM_005236.2 [CDS]
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