Variant Results

or

or

Results for "EPN1"

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

EPN1

11461.p1

chr19:
56196973-56196973

C

T

exonic

De novo

nonsynonymous SNV

NM_001130072
NM_013333
NM_001130071

c.C440T
c.C440T
c.C773T

p.A147V
p.A147V
p.A258V

22.1

-

Ji2016 E
Krumm2015 E
Zhou2022 GE

EPN1

3-0607-001

chr19:
56186587-56186587

T

G

UTR5

De novo

-

-

Trost2022 G

EPN1

2-1155-003

chr19:
56205371-56205371

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EPN1

SP0060524

chr19:
56190147-56190147

G

A

exonic

De novo

nonsynonymous SNV

NM_001130072
NM_013333
NM_001130071

c.G154A
c.G154A
c.G487A

p.A52T
p.A52T
p.A163T

18.64

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EPN1

10003561017619120-C

chr19:
56204107-56204107

C

T

exonic

De novo

synonymous SNV

NM_013333
NM_001130071
NM_001130072

c.C1047T
c.C1380T
c.C1122T

p.A349A
p.A460A
p.A374A

-

Fu2022 E

EPN1

REACH000368

chr19:
56204994-56204994

G

A

intronic

De novo

-

-

Trost2022 G

EPN1

REACH000159

chr19:
56204451-56204451

A

C

intronic

De novo

-

-

Trost2022 G

EPN1

MSSNG00011-004

chr19:
56202337-56202337

G

A

intronic

De novo

-

-

Trost2022 G

EPN1

3-0607-001

chr19:
56186591-56186591

T

C

UTR5

De novo

-

-

Trost2022 G

EPN1

Wang2023:903

chr19:
56206239-56206239

C

T

exonic

De novo

nonsynonymous SNV

NM_013333
NM_001130071
NM_001130072

c.C1334T
c.C1670T
c.C1412T

p.P445L
p.P557L
p.P471L

17.69

-

Wang2023 E

EPN1

A4

chr19:
56198462-56198462

T

TA

intronic

De novo

-

-

Wu2018 G

EPN1

SSC00441

chr19:
56196973-56196973

C

T

exonic

De novo

nonsynonymous SNV

NM_001130072
NM_013333
NM_001130071

c.C440T
c.C440T
c.C773T

p.A147V
p.A147V
p.A258V

22.1

-

Lim2017 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
	More