Variant Results

or

or

Results for "DNA2"

Variant Events: 19

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

DNA2

iHART2809

chr10:
70231668-70231669

CG

C

UTR5

Maternal

-

Ruzzo2019 G

DNA2

iHART2807

chr10:
70231668-70231669

CG

C

UTR5

Maternal

-

Ruzzo2019 G

DNA2

1-0175-004

chr10:
70210172-70210172

T

C

intronic

De novo

-

-

Yuen2017 G

DNA2

SP0059540

chr10:
70229757-70229757

A

G

exonic

De novo

nonsynonymous SNV

NM_001080449

c.T238C

p.C80R

19.94

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNA2

4-0056-003

chr10:
70216353-70216353

T

C

intronic

De novo

-

-

Trost2022 G

DNA2

MSSNG00049-003

chr10:
70225713-70225713

G

A

intronic

De novo

-

-

Trost2022 G

DNA2

MSSNG00346-004

chr10:
70173357-70173357

A

T

downstream

De novo

-

-

Trost2022 G

DNA2

4-0037-003

chr10:
70179853-70179853

C

G

intronic

De novo

-

-

Trost2022 G

DNA2

F7938-1

chr10:
70182378-70182378

T

TCGCACCACTGCACTCCAGCCTGGGCGCCAGAGCCAAAC

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

DNA2

AU4231301

chr10:
70207489-70207489

C

T

intronic

De novo

-

-

Yuen2017 G

DNA2

12981.p1

chr10:
70218906-70218906

A

C

exonic

nonsynonymous SNV

NM_001080449

c.T674G

p.M225R

20.5

-

Zhou2022 GE

DNA2

UK10K_SKUSE5080263

chr10:
70181995-70181995

A

C

exonic

De novo

nonsynonymous SNV

NM_001080449

c.T2684G

p.L895R

18.99

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNA2

111305

chr10:
70191632-70191632

G

A

exonic

nonsynonymous SNV

NM_001080449

c.C1970T

p.T657M

27.6

Woodbury-Smith2022 E

DNA2

mAGRE6059

chr10:
70231681-70231681

G

GT

UTR5

Maternal

-

-

Cirnigliaro2023 G

DNA2

1-0175-003

chr10:
70210172-70210172

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNA2

AU2139303

chr10:
70231668-70231669

CG

C

UTR5

Maternal

-

Cirnigliaro2023 G

DNA2

AU2139301

chr10:
70231668-70231669

CG

C

UTR5

Maternal

-

Cirnigliaro2023 G

DNA2

mAGRE2071

chr10:
70218981-70219025

TTTAAGCGGTACCTGCCAAAAATATAATAGTAAATAGACTTAGAC

T

exonic

Paternal

frameshift deletion

NM_001080449

c.588_598del

p.M196fs

-

-

Cirnigliaro2023 G

DNA2

1-0186-005

chr10:
70216671-70216671

T

C

intronic

De novo

-

-

Trost2022 G
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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