Variant Results

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or

Results for "DSPP"

Variant Events: 12

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

DSPP

111305

chr4:
88535225-88535225

T

C

exonic

nonsynonymous SNV

NM_014208

c.T1411C

p.S471P

5.021

-

Woodbury-Smith2022 E

DSPP

200675573@1082035017

chr4:
88536868-88536868

T

C

exonic

De novo

synonymous SNV

NM_014208

c.T3054C

p.S1018S

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DSPP

CC967.201

chr4:
88535760-88535760

A

G

exonic

De novo

nonsynonymous SNV

NM_014208

c.A1946G

p.D649G

1.825

-

Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DSPP

mAGRE5095

chr4:
88534234-88534234

C

A

exonic

Paternal

stopgain

NM_014208

c.C896A

p.S299X

20.3

-

Cirnigliaro2023 G

DSPP

G01_GEA504HI

chr4:
88537018-88537018

T

G

exonic

De novo

nonsynonymous SNV

NM_014208

c.T3204G

p.D1068E

4.502

-

Fu2022 E

DSPP

14184.p1

chr4:
88537421-88537421

G

T

exonic

De novo

nonsynonymous SNV

NM_014208

c.G3607T

p.D1203Y

0.018

-

Krumm2015 E

DSPP

SP0063020

chr4:
88537231-88537231

C

T

exonic

De novo

synonymous SNV

NM_014208

c.C3417T

p.S1139S

-

Trost2022 G

DSPP

12035_p1

chr4:
88537432-88537432

T

TAGCAGTGAC

exonic

De novo

nonframeshift insertion

NM_014208

c.3618_3619insAGCAGTGAC

p.D1206delinsDSSD

-

Fu2022 E

DSPP

Codina-Sola2015:ASD_32

chr4:
88536542-88536551

AACAGCAGTG

A

exonic

Unknown

nonframeshift deletion

NM_014208

c.2729_2737del

p.910_913del

-

Codina-Sola2015 E

DSPP

2-1276-003

chr4:
88557512-88557512

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DSPP

200675573_1082035017

chr4:
88536868-88536868

T

C

exonic

De novo

synonymous SNV

NM_014208

c.T3054C

p.S1018S

-

Fu2022 E

DSPP

CC967_201

chr4:
88535760-88535760

A

G

exonic

De novo

nonsynonymous SNV

NM_014208

c.A1946G

p.D649G

1.825

-

Fu2022 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
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