Variant Results

or

Results for "Khan2024"

Variant Events: 16

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

TTC19

PKASD-26

chr17:
15909789-15909789

C

T

exonic

Both parents

stopgain

NM_001271420
NM_017775

c.C262T
c.C583T

p.Q88X
p.Q195X

37.0

8.253E-6

Khan2024 E

SLC35A2

PKASD-19

chrX:
48762117-48762117

C

G

exonic

Maternal

nonsynonymous SNV

NM_001282649
NM_001032289
NM_001042498
NM_001282647
NM_001282648
NM_001282650
NM_005660
NM_001282651

c.G886C
c.G479C
c.G1069C
c.G479C
c.G407C
c.G1108C
c.G1069C
c.G1153C

p.G296R
p.R160P
p.G357R
p.R160P
p.R136P
p.G370R
p.G357R
p.G385R

10.77

1.219E-5

Khan2024 E

CDKL5

PKASD-18

chrX:
18646620-18646620

A

G

exonic

Maternal

nonsynonymous SNV

NM_003159
NM_001037343

c.A2626G
c.A2626G

p.I876V
p.I876V

10.61

-

Khan2024 E

TRANK1

PKASD-14

chr3:
36931409-36931409

T

C

exonic

Both parents

nonsynonymous SNV

NM_014831

c.A686G

p.E229G

24.0

2.0E-4

Khan2024 E

TRANK1

PKASD-14

chr3:
36905962-36905962

T

C

exonic

Both parents

nonsynonymous SNV

NM_014831

c.A956G

p.N319S

5.978

5.299E-5

Khan2024 E

CSMD2

PKASD-39

chr1:
34082538-34082538

C

T

exonic

De novo

nonsynonymous SNV

NM_001281956
NM_052896

c.G5984A
c.G5864A

p.R1995Q
p.R1955Q

37.0

-

Khan2024 E

ARAP1

PKASD-37

chr11:
72410069-72410069

C

T

exonic

De novo

stopgain

NM_001135190
NM_015242
NM_001040118

c.G1604A
c.G1787A
c.G2522A

p.W535X
p.W596X
p.W841X

37.0

-

Khan2024 E

PDZD4

PKASD-37

chrX:
153070213-153070213

G

A

exonic

Maternal

nonsynonymous SNV

NM_001303514
NM_001303512
NM_001303515
NM_001303516
NM_032512
NM_001303513

c.C578T
c.C923T
c.C680T
c.C662T
c.C905T
c.C617T

p.P193L
p.P308L
p.P227L
p.P221L
p.P302L
p.P206L

9.836

1.172E-5

Khan2024 E

EFCAB12

PKASD-37

chr3:
129147293-129147293

C

G

exonic

Both parents

nonsynonymous SNV

NM_207307

c.G39C

p.L13F

4.621

3.0E-4

Khan2024 E

NEDD4

PKASD-32

chr15:
56207541-56207541

C

T

exonic

De novo

nonsynonymous SNV

NM_001284338
NM_001284339
NM_001284340
NM_198400

c.G1489A
c.G1489A
c.G1489A
c.G1489A

p.D497N
p.D497N
p.D497N
p.D497N

10.12

-

Khan2024 E

GML

PKASD-26

chr8:
143921881-143921881

A

G

exonic

Both parents

nonsynonymous SNV

NM_002066

c.A28G

p.M10V

0.005

6.591E-5

Khan2024 E

EIF3H

PKASD-26

chr8:
117767987-117767987

G

C

exonic

Both parents

nonsynonymous SNV

NM_003756

c.C50G

p.S17C

11.61

4.97E-5

Khan2024 E

ZNF292

PKASD-26

chr6:
87971373-87971373

G

A

exonic

Both parents

nonsynonymous SNV

NM_015021

c.G8026A

p.D2676N

16.57

6.0E-4

Khan2024 E

TMEM232

PKASD-47

chr5:
109973924-109973924

T

C

exonic

Both parents

nonsynonymous SNV

NM_001039763

c.A476G

p.Y159C

10.16

-

Khan2024 E

POLR3G

PKASD-47

chr5:
89781487-89781487

C

A

exonic

Both parents

nonsynonymous SNV

NM_006467

c.C103A

p.P35T

18.61

1.0E-4

Khan2024 E

TMEM214

PKASD-47

chr2:
27259973-27259973

G

A

exonic

Both parents

nonsynonymous SNV

NM_001083590
NM_017727

c.G802A
c.G937A

p.G268S
p.G313S

25.9

9.936E-5

Khan2024 E

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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