Variant Results

or

Results for "EPB41L1"

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

EPB41L1

200675750@1082026144

chr20:
34765932-34765932

A

G

exonic

De novo

nonsynonymous SNV

NM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330

c.A215G
c.A401G
c.A215G
c.A401G
c.A308G

p.E72G
p.E134G
p.E72G
p.E134G
p.E103G

27.2

-

Satterstrom2020 E

EPB41L1

AU2433302

chr20:
34800128-34800128

A

G

intronic

De novo

-

Yuen2017 G

EPB41L1

2-1178-003

chr20:
34772728-34772728

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EPB41L1

AU3913301

chr20:
34782920-34782920

G

C

intronic

De novo

-

Yuen2017 G

EPB41L1

SP0029500

chr20:
34794394-34794394

C

G

intronic

De novo

20.9

-

Fu2022 E

EPB41L1

SSC09033

chr20:
34778600-34778600

G

A

exonic

De novo

nonsynonymous SNV

NM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330

c.G995A
c.G1181A
c.G995A
c.G1181A
c.G1088A

p.R332Q
p.R394Q
p.R332Q
p.R394Q
p.R363Q

36.0

-

Fu2022 E

EPB41L1

Chen2017:125

chr20:
34765932-34765932

A

G

exonic

De novo

nonsynonymous SNV

NM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330

c.A215G
c.A401G
c.A215G
c.A401G
c.A308G

p.E72G
p.E134G
p.E72G
p.E134G
p.E103G

27.2

-

Chen2017 E

EPB41L1

1-0339-004

chr20:
34723436-34723436

T

A

intronic

De novo

-

Yuen2017 G

EPB41L1

200675750_1082026144

chr20:
34765932-34765932

A

G

exonic

De novo

nonsynonymous SNV

NM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330

c.A215G
c.A401G
c.A215G
c.A401G
c.A308G

p.E72G
p.E134G
p.E72G
p.E134G
p.E103G

27.2

-

Fu2022 E

EPB41L1

13771.p1

chr20:
34778600-34778600

G

A

exonic

De novo

nonsynonymous SNV

NM_001258331
NM_012156
NM_177996
NM_001258329
NM_001258330

c.G995A
c.G1181A
c.G995A
c.G1181A
c.G1088A

p.R332Q
p.R394Q
p.R332Q
p.R394Q
p.R363Q

36.0

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

EPB41L1

AU079204

chr20:
34733099-34733099

C

T

intronic

De novo

-

Yuen2017 G

EPB41L1

1-0261-004

chr20:
34816761-34816761

A

C

intronic

De novo

-

Yuen2017 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
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