Variant Results

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Results for "HEXDC"

Variant Events: 14

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

HEXDC

mAGRE2321

chr17:
80397506-80397506

G

C

splicing

Maternal

splicing

12.03

Cirnigliaro2023 G

HEXDC

mAGRE2319

chr17:
80397506-80397506

G

C

splicing

Maternal

splicing

12.03

Cirnigliaro2023 G

HEXDC

mAGRE1245

chr17:
80391699-80391699

G

A

splicing

Paternal

splicing

11.41

-

Cirnigliaro2023 G

HEXDC

iHART1245

chr17:
80391699-80391699

G

A

splicing

Paternal

splicing

11.41

-

Ruzzo2019 G

HEXDC

mAGRE5677

chr17:
80382270-80382271

AT

A

exonic

Maternal

frameshift deletion

NM_173620

c.86delT

p.I29fs

-

-

Cirnigliaro2023 G

HEXDC

mAGRE5676

chr17:
80382270-80382271

AT

A

exonic

Maternal

frameshift deletion

NM_173620

c.86delT

p.I29fs

-

-

Cirnigliaro2023 G

HEXDC

AU045010

chr17:
80385050-80385050

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HEXDC

iHART2319

chr17:
80397506-80397506

G

C

splicing

Maternal

splicing

12.03

Ruzzo2019 G

HEXDC

iHART2321

chr17:
80397506-80397506

G

C

splicing

Maternal

splicing

12.03

Ruzzo2019 G

HEXDC

SSC08684

chr17:
80400334-80400334

C

T

exonic

De novo

nonsynonymous SNV

NM_173620

c.C1624T

p.R542W

15.07

Lim2017 E

HEXDC

SP0142236

chr17:
80397334-80397334

C

T

intronic

De novo

-

-

Trost2022 G

HEXDC

2-0503-004

chr17:
80387548-80387548

C

T

intronic

De novo

-

-

Yuen2017 G

HEXDC

13639.p1

chr17:
80400334-80400334

C

T

exonic

De novo

nonsynonymous SNV

NM_173620

c.C1624T

p.R542W

15.07

Ji2016 E
Krumm2015 E
Zhou2022 GE

HEXDC

SP0015310

chr17:
80376407-80376407

C

T

UTR5

De novo

-

-

Fu2022 E
Trost2022 G
Trost2022 G

Source Variant Information

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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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