Variant Results

or

or

Results for "EEPD1"

Variant Events: 17

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

EEPD1

2-1437-003

chr7:
36322791-36322791

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EEPD1

2-1451-004

chr7:
36267852-36267873

TACAGACTGGGCATGGTGGCTA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EEPD1

1-0534-004

chr7:
36328098-36328098

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EEPD1

REACH000616

chr7:
36324417-36324417

C

T

exonic

De novo

synonymous SNV

NM_030636

c.C1164T

p.L388L

-

Trost2022 G
Zhou2022 GE

EEPD1

2-0309-003

chr7:
36194174-36194174

G

A

exonic

nonsynonymous SNV

NM_030636

c.G241A

p.A81T

20.6

-

Zhou2022 GE

EEPD1

3-0543-000

chr7:
36193112-36193112

A

C

UTR5

De novo

-

-

Trost2022 G

EEPD1

12568.p1

chr7:
36280897-36280897

G

A

intronic

De novo

-

-

Turner2016 G

EEPD1

12568.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

EEPD1

2-0309-004

chr7:
36327216-36327216

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EEPD1

SP0055197

chr7:
36320774-36320774

G

T

exonic

De novo

nonsynonymous SNV

NM_030636

c.G981T

p.K327N

17.07

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EEPD1

1-0408-003

chr7:
36290188-36290188

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EEPD1

2-1242-003

chr7:
36340185-36340185

G

A

UTR3

De novo

-

-

Yuen2016 G
Yuen2017 G

EEPD1

1-0049-004

chr7:
36267852-36267873

TACAGACTGGGCATGGTGGCTA

T

intronic

De novo

-

-

Trost2022 G

EEPD1

5-5098-003

chr7:
36338350-36338350

A

G

intronic

De novo

-

-

Trost2022 G

EEPD1

MSSNG00003-003

chr7:
36231179-36231179

G

C

intronic

De novo

-

-

Trost2022 G

EEPD1

mAGRE5101

chr7:
36338810-36338810

C

T

exonic

Maternal

stopgain

NM_030636

c.C1705T

p.R569X

44.0

Cirnigliaro2023 G

EEPD1

1-0049-004

chr7:
36267839-36267849

CACATAAAACA

T

intronic

De novo

-

-

Trost2022 G

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
	More