Variant Results

or

Results for "Lee2020"

Variant Events: 22

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

KAT6A

Lee2020:76

chr8:
41792282-41792282

C

T

exonic

stopgain

NM_006766

c.G3456A

p.W1152X

45.0

-

Lee2020 T

AUTS2

Lee2020:69

chr7:
70255163-70255164

GG

G

exonic

frameshift deletion

NM_001127231
NM_015570

c.2890delG
c.2962delG

p.E964fs
p.E988fs

-

Lee2020 T

ROBO1

Lee2020:84

chr3:
78685067-78685067

G

A

exonic

stopgain

NM_001145845
NM_133631
NM_002941

c.C2929T
c.C3094T
c.C3229T

p.Q977X
p.Q1032X
p.Q1077X

43.0

-

Lee2020 T

CCDC50

Lee2020:76

chr3:
191074910-191074910

C

CAC

exonic

frameshift insertion

NM_174908
NM_178335

c.83_84insAC
c.83_84insAC

p.T28fs
p.T28fs

-

Lee2020 T

ABCC2

Lee2020:39

chr10:
101578577-101578577

C

T

exonic

nonsynonymous SNV

NM_000392

c.C2302T

p.R768W

24.1

7.419E-5

Lee2020 T

ABCC2

Lee2020:39

chr10:
101578849-101578849

C

T

exonic

stopgain

NM_000392

c.C2443T

p.R815X

41.0

2.472E-5

Lee2020 T

MECP2

Lee2020:57

chrX:
153296876-153296876

T

C

exonic

nonsynonymous SNV

NM_001110792
NM_004992
NM_001316337

c.A439G
c.A403G
c.A124G

p.K147E
p.K135E
p.K42E

16.75

-

Lee2020 T

PTEN

Lee2020:46

chr10:
89690842-89690842

C

A

exonic

stopgain

NM_000314
NM_001304717

c.C249A
c.C768A

p.C83X
p.C256X

48.0

-

Lee2020 T

NSD1

Lee2020:136

chr5:
176719045-176719045

C

T

exonic

stopgain

NM_022455
NM_172349

c.C6349T
c.C5542T

p.R2117X
p.R1848X

45.0

-

Lee2020 T

ZEB2

Lee2020:122

chr2:
145156260-145156260

C

T

exonic

nonsynonymous SNV

NM_001171653
NM_014795

c.G2422A
c.G2494A

p.A808T
p.A832T

8.127

-

Lee2020 T

SLC26A4

Lee2020:138

chr7:
107323898-107323898

A

G

splicing

19.62

3.0E-4

Lee2020 T

SLC26A4

Lee2020:138

chr7:
107350577-107350577

A

G

exonic

nonsynonymous SNV

NM_000441

c.A2168G

p.H723R

21.2

1.0E-4

Lee2020 T

TSC2

Lee2020:94

chr16:
2136274-2136277

CATC

C

exonic

nonframeshift deletion

NM_001077183
NM_001114382
NM_000548

c.4543_4545del
c.4675_4677del
c.4744_4746del

p.1515_1515del
p.1559_1559del
p.1582_1582del

-

Lee2020 T

HUWE1

Lee2020:87

chrX:
53658518-53658518

C

T

splicing

19.21

-

Lee2020 T

MECP2

Lee2020:121

chrX:
153296824-153296824

G

C

exonic

nonsynonymous SNV

NM_001110792
NM_004992
NM_001316337

c.C491G
c.C455G
c.C176G

p.P164R
p.P152R
p.P59R

19.01

-

Lee2020 T

CACNG2

Lee2020:96

chr22:
36960935-36960935

T

C

splicing

17.47

-

Lee2020 T

LRP2

Lee2020:143

chr2:
170083012-170083012

C

T

exonic

nonsynonymous SNV

NM_004525

c.G5314A

p.V1772I

13.98

-

Lee2020 T

SYNGAP1

Lee2020:142

chr6:
33405662-33405662

T

C

exonic

nonsynonymous SNV

NM_006772

c.T980C

p.L327P

20.4

-

Lee2020 T

MECP2

Lee2020:24

chrX:
153296677-153296677

G

A

exonic

nonsynonymous SNV

NM_001110792
NM_004992
NM_001316337

c.C638T
c.C602T
c.C323T

p.A213V
p.A201V
p.A108V

11.49

0.0015

Lee2020 T

SCN3A

Lee2020:20

chr2:
165946790-165946790

G

C

exonic

nonsynonymous SNV

NM_001081676
NM_001081677
NM_006922

c.C5726G
c.C5726G
c.C5873G

p.T1909R
p.T1909R
p.T1958R

9.337

-

Lee2020 T

SCN1A

Lee2020:38

chr2:
166895923-166895923

T

TC

intronic

-

Lee2020 T

GRIN2A

Lee2020:34

chr16:
9858342-9858342

G

C

exonic

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.C3059G
c.C3059G
c.C3059G

p.S1020C
p.S1020C
p.S1020C

17.83

-

Lee2020 T

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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