Variant Results

or

Results for "SAMD5"

Variant Events: 51

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

SAMD5

AU2075302

chr6:
148238488-148238488

C

G

intergenic

De novo

-

Yuen2017 G

SAMD5

2-0018-004

chr6:
147860465-147860465

A

G

intronic

De novo

-

Yuen2017 G

SAMD5

1-0006-004

chr6:
148275344-148275344

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

11348.p1

chr6:
148347885-148347885

T

G

intergenic

De novo

-

Werling2018 G

SAMD5

AU043804

chr6:
148583478-148583478

T

C

intergenic

De novo

-

Yuen2017 G

SAMD5

AU4033303

chr6:
148629207-148629207

T

C

intergenic

De novo

-

Yuen2017 G

SAMD5

AU4264302

chr6:
147891654-147891654

C

T

downstream

De novo

-

Yuen2017 G

SAMD5

2-0264-004

chr6:
147894989-147894989

G

A

intergenic

De novo

-

Yuen2017 G

SAMD5

AU3874301

chr6:
147965424-147965424

G

A

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0336-004

chr6:
148389604-148389604

A

C

intergenic

De novo

-

Yuen2017 G

SAMD5

2-0242-005

chr6:
147915139-147915154

CCTGTAATCCCAGATA

C

intergenic

De novo

-

Yuen2017 G

SAMD5

5-0106-003

chr6:
147854048-147854048

C

T

intronic

De novo

-

Yuen2017 G

SAMD5

AU2293302

chr6:
148310811-148310811

G

A

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0898-003

chr6:
148274299-148274299

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU1933301

chr6:
148036305-148036305

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0169-003

chr6:
148274265-148274265

C

CTAA

intergenic

De novo

-

Yuen2017 G

SAMD5

AU3721301

chr6:
148335874-148335884

TAGACAGACAG

TAGACAG

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0181-004

chr6:
147887183-147887183

G

C

UTR3

De novo

-

Yuen2017 G

SAMD5

1-0271-003

chr6:
148552811-148552811

C

A

intergenic

De novo

-

Yuen2017 G

SAMD5

AU074503

chr6:
148489609-148489609

G

C

intergenic

De novo

-

Yuen2017 G

SAMD5

2-1279-003

chr6:
147937867-147937867

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SAMD5

2-0242-004

chr6:
147915139-147915154

CCTGTAATCCCAGATA

C

intergenic

De novo

-

Yuen2017 G

SAMD5

AU074503

chr6:
148489181-148489181

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU3874303

chr6:
148341501-148341501

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

2-0116-004

chr6:
148294308-148294308

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

2-0102-003

chr6:
148416253-148416253

C

G

intergenic

De novo

-

Yuen2017 G

SAMD5

2-1131-003

chr6:
148515952-148515952

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SAMD5

1-0656-003

chr6:
148408447-148408447

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU3903301

chr6:
148030630-148030644

TTTTGCTTTGGTTTG

TTTTG

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0269-005

chr6:
148000770-148000770

A

G

intergenic

De novo

-

Yuen2017 G

SAMD5

AU1640302

chr6:
148118832-148118832

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU015903

chr6:
148085359-148085359

A

G

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0191-004

chr6:
148392381-148392381

A

C

intergenic

De novo

-

Yuen2017 G

SAMD5

7-0032-003

chr6:
147829052-147829052

G

A

upstream

De novo

-

Yuen2017 G

SAMD5

AU4145303

chr6:
148578871-148578871

A

G

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0303-004

chr6:
148280203-148280203

C

T

intergenic

De novo

-

Yuen2017 G

SAMD5

7-0188-003

chr6:
148354469-148354469

A

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU3861301

chr6:
148375101-148375101

A

T

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0559-005

chr6:
147915139-147915154

CCTGTAATCCCAGATA

C

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0232-004

chr6:
148644042-148644042

C

CTTT

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0414-005

chr6:
147843206-147843210

ATCTG

A

intronic

De novo

-

Yuen2017 G

SAMD5

AU3768302

chr6:
148427778-148427778

G

A

intergenic

De novo

-

Yuen2017 G

SAMD5

iHART2049

chr6:
147885541-147885541

T

TGGCA

exonic

Paternal

frameshift insertion

NM_001030060

c.471_472insGGCA

p.A157fs

-

8.239E-6

Ruzzo2019 G

SAMD5

AU073003

chr6:
147926056-147926056

A

G

intergenic

De novo

-

Yuen2017 G

SAMD5

7-0127-003

chr6:
148248616-148248616

G

A

intergenic

De novo

-

Yuen2017 G

SAMD5

AU063005

chr6:
148540594-148540594

A

T

intergenic

De novo

-

Yuen2017 G

SAMD5

AU1988302

chr6:
147948587-147948587

T

C

intergenic

De novo

-

Yuen2017 G

SAMD5

1-0007-003

chr6:
148101229-148101229

A

G

intergenic

De novo

-

Yuen2017 G

SAMD5

SP0089775

chr6:
147886466-147886466

G

A

UTR3

De novo

-

Fu2022 E

SAMD5

5-0109-003

chr6:
148270167-148270167

T

C

intergenic

De novo

-

Yuen2017 G

SAMD5

AU1933302

chr6:
147967545-147967545

G

A

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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