CEP135, centrosomal protein 135, 9662

N. diseases: 31; N. variants: 5
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307120
rs1085307120 		1.000 4 55974970 splice donor variant G/A snv
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553895368
rs1553895368 		1.000 4 56017775 frameshift variant TT/- del
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs202247811
rs202247811 		1.000 4 55965785 frameshift variant C/- del
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs752140135
rs752140135 		1.000 4 55965689 stop gained C/T snv 3.6E-05 6.3E-05
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0