Gene Mutations
 
Records Return:  (13) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ERCC212634027873019q13.2-q13.3+T insertion (splice donor site of intron 15) TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.318 bp deletion (1540-1557; c.1462-1479) TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.345 bp deletion (c.2224-2268) XERODERMA PIGMENTOSUM, TYPE D1
ERCC212634027873019q13.2-q13.378 bp deletion (106-183) XERODERMA PIGMENTOSUM, TYPE D2
ERCC212634027873019q13.2-q13.3ARG112HIS0006TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.3ARG616PRO TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.3ARG658CYS0007TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.3ARG683TRP XERODERMA PIGMENTOSUM, TYPE D4
ERCC212634027873019q13.2-q13.3ARG722TRP TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.3GLY47ARG XERODERMA PIGMENTOSUM, TYPE D1
ERCC212634027873019q13.2-q13.3GLY602ASP XERODERMA PIGMENTOSUM, TYPE D2
ERCC212634027873019q13.2-q13.3GLY713ARG0008TRICHOTHIODYSTROPHY1
ERCC212634027873019q13.2-q13.3LEU461VAL0001XERODERMA PIGMENTOSUM, TYPE D1