current
TAZ:c.109+28C>T AND AllHighlyPenetrant
current
classified by single submitter
probably not pathogenic
germline
human
unknown
assert pathogenicity
sanger sequencing
clinical testing
TAZ:c.109+28C>T
c.109+28C>T
NM_001009932.1:c.-520G>A
NM_000116.3:c.109+28C>T
NG_012884.1:g.5111G>A
NG_009634.1:g.5441C>T
NC_000023.10:g.153640317C>T
NW_003871103.2:g.1885101C>T
NM_000116.3:INTRON 1
Xq28
tafazzin
TAZ
AllHighlyPenetrant
Term used to represent disorders for which a pathogenic allele would be expected to be expressed as the disorder. Created for use in ClinVar so that submitters can convey the concept that an assertion of no known pathogenicity for an allele applies to more than one disorder.
current
classified by single submitter
probably not pathogenic
germline
human
unknown
assert pathogenicity
sanger sequencing
clinical testing
c.109+28C>T
NM_000116.3:INTRON 1
NM_000116.3:c.109+28C>T
TAZ
AllHighlyPenetrant