The "Parental origin of de novo mutations" entries were created by Rivka Glaser, Ph.D from Department of Biological Sciences, Villa Julie College, Stevenson, MD 21153.. 


Disorder:

ABBREVIATIONS:

Gene Name:

Inheritance/Gene:
Inheritance:
AD
AR
A
XD
XR
X
autosomal dominant
autosomal recessive
autosomal
X−linked dominant
X−linked recessive
X−linked

Chromosomal Location:

Mutation:

First author:

P(MS)
P(NS)
P(SS)
P
Del
Ins
Dup
Tloc
Rearr
Lg
Sm
TS
TV
CpG
point mutation (missense)
point mutation (nonsense)
point mutation (splice site)
any point mutation
deletion
insertion
duplication
translocation
rearrangement
large (>20 bp)
small (<20 bp)
transition
transversion
CpG mutation

Mutation Type:

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