Variant Results

or

or

Results for "HEPH"

Variant Events: 11

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

HEPH

AU4093304

chrX:
65577165-65577167

TAA

TAAA

intergenic

De novo

-

-

Yuen2017 G

HEPH

AU3728301

chrX:
65781375-65781375

C

T

intergenic

De novo

-

-

Yuen2017 G

HEPH

1-0923-003

chrX:
65432719-65432719

T

G

intronic

De novo

-

-

Yuen2017 G

HEPH

AU037103

chrX:
65423236-65423236

G

A

exonic

Unknown

nonsynonymous SNV

NM_001282141
NM_014799
NM_001130860
NM_138737

c.G1541A
c.G1307A
c.G2117A
c.G2270A

p.S514N
p.S436N
p.S706N
p.S757N

11.19

Chahrour2012 E

HEPH

1-0218-003

chrX:
65731977-65731977

C

T

intergenic

De novo

-

-

Yuen2017 G

HEPH

AU4093301

chrX:
65577165-65577167

TAA

TAAA

intergenic

De novo

-

-

Yuen2017 G

HEPH

1-0609-003

chrX:
65587116-65587116

G

C

intergenic

De novo

-

-

Yuen2017 G

HEPH

1-0652-004

chrX:
65467639-65467639

G

A

intronic

De novo

-

-

Yuen2017 G

HEPH

2-1402-003

chrX:
65507588-65507588

C

A

intergenic

De novo

-

-

Yuen2017 G

HEPH

iHART2533

chrX:
65392199-65392200

TG

T

exonic

Unknown

frameshift deletion

NM_001130860
NM_001282141
NM_138737

c.180delG
c.180delG
c.333delG

p.V60fs
p.V60fs
p.V111fs

-

-

Ruzzo2019 G

HEPH

7-0249-003

chrX:
65660445-65660445

G

T

intergenic

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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