Variant Results

or

or

Results for "HELB"

Variant Events: 15

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

HELB

5-5123-004

chr12:
66697616-66697616

T

C

intronic

De novo

-

-

Trost2022 G

HELB

11382.p1

chr12:
66715718-66715718

G

T

intronic

Mosaic

-

-

Dou2017 E

HELB

MSSNG00401-003

chr12:
66715441-66715441

A

G

intronic

De novo

-

-

Trost2022 G

HELB

AU1355301

chr12:
66723169-66723169

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HELB

AU1355301

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

HELB

AU1355301

chr12:
66723185-66723185

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HELB

MSSNG00257-004

chr12:
66728846-66728846

T

C

intronic

De novo

-

-

Trost2022 G

HELB

AU017703

chr12:
66730176-66730176

G

GA

intronic

De novo

-

-

Trost2022 G

HELB

iHART2646

chr12:
66703995-66703995

G

A

exonic

Paternal

stopgain

NM_033647

c.G1287A

p.W429X

20.2

Ruzzo2019 G

HELB

mAGRE1513

chr12:
66717779-66717819

CTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAA

C

exonic

Maternal

frameshift deletion

NM_033647

c.2315_2354del

p.L772fs

-

Cirnigliaro2023 G

HELB

iHART2648

chr12:
66703995-66703995

G

A

exonic

Paternal

stopgain

NM_033647

c.G1287A

p.W429X

20.2

Ruzzo2019 G

HELB

mAGRE2648

chr12:
66703995-66703995

G

A

exonic

Paternal

stopgain

NM_033647

c.G1287A

p.W429X

20.2

Cirnigliaro2023 G

HELB

mAGRE2646

chr12:
66703995-66703995

G

A

exonic

Paternal

stopgain

NM_033647

c.G1287A

p.W429X

20.2

Cirnigliaro2023 G

HELB

iHART1513

chr12:
66717779-66717819

CTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAA

C

exonic

Maternal

frameshift deletion

NM_033647

c.2315_2354del

p.L772fs

-

Ruzzo2019 G

HELB

2-0019-004

chr12:
66708690-66708690

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 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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