Variant Results

or

Results for "SASH1"

Variant Events: 50

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

SASH1

MSSNG00033-005

chr6:
148682925-148682925

C

T

intronic

De novo

-

Trost2022 G

SASH1

7-0388-003

chr6:
148683994-148683994

A

G

intronic

De novo

-

Trost2022 G

SASH1

PN400508

chr6:
148869462-148869462

G

A

exonic

Unknown

nonsynonymous SNV

NM_015278

c.G3512A

p.R1171Q

32.0

0.0013

Leblond2019 E

SASH1

MSSNG00336-004

chr6:
148674348-148674348

C

T

intronic

De novo

-

Trost2022 G

SASH1

MSSNG00085-003

chr6:
148682040-148682044

CTTTG

C

intronic

De novo

-

Trost2022 G

SASH1

SSC10794

chr6:
148865495-148865495

C

T

exonic

De novo

synonymous SNV

NM_015278

c.C2889T

p.P963P

-

Fu2022 E
Lim2017 E
Trost2022 G

SASH1

NDAR_INVPR953BYH_wes1

chr6:
148855947-148855947

G

A

exonic

Mosaic

nonsynonymous SNV

NM_015278

c.G2005A

p.E669K

31.0

-

Lim2017 E

SASH1

1-0412-003

chr6:
148881361-148881361

C

T

intergenic

De novo

-

Yuen2017 G

SASH1

MSSNG00369-005

chr6:
148741053-148741053

A

G

intronic

De novo

-

Trost2022 G

SASH1

AU1795302

chr6:
148942302-148942307

AAGTAG

AAG

intergenic

De novo

-

Yuen2017 G

SASH1

7-0298-004

chr6:
148771973-148771973

C

T

intronic

De novo

-

Trost2022 G

SASH1

MT_156.3

chr6:
148735841-148735841

G

A

intronic

De novo

-

Trost2022 G

SASH1

1-0714-003

chr6:
148736235-148736235

A

G

intronic

De novo

-

Trost2022 G

SASH1

REACH000233

chr6:
148702793-148702793

G

T

intronic

De novo

-

Trost2022 G

SASH1

2-1734-004

chr6:
148729799-148729799

G

A

intronic

De novo

-

Trost2022 G

SASH1

MSSNG00021-003

chr6:
148702231-148702231

C

T

intronic

De novo

-

Trost2022 G

SASH1

J4K7A_01

chr6:
148702793-148702793

G

T

intronic

De novo

-

Trost2022 G

SASH1

MSSNG00386-003

chr6:
148856183-148856183

C

T

intronic

De novo

-

Trost2022 G

SASH1

7-0254-004

chr6:
148929890-148929890

G

A

intergenic

De novo

-

Yuen2017 G

SASH1

7-0258-003

chr6:
148867961-148867961

A

G

intronic

De novo

-

Trost2022 G

SASH1

3-0422-000

chr6:
148823251-148823251

C

T

intronic

De novo

-

Trost2022 G

SASH1

1-0142-005

chr6:
148836383-148836386

TGGA

CGCGCCCGGCC

intronic

De novo

-

Trost2022 G

SASH1

7-0024-003

chr6:
148975453-148975453

C

T

intergenic

De novo

-

Yuen2017 G

SASH1

3-0873-000

chr6:
148802658-148802658

G

A

intronic

De novo

-

Trost2022 G

SASH1

5-5040-003

chr6:
148809818-148809818

T

G

intronic

De novo

-

Trost2022 G

SASH1

4-0064-003

chr6:
148776618-148776618

A

AGAAGGG

intronic

De novo

-

Trost2022 G

SASH1

2-1306-003

chr6:
148802171-148802174

ATCT

GCCG

intronic

De novo

-

Trost2022 G

SASH1

AU4024303

chr6:
148956327-148956327

C

T

intergenic

De novo

-

Yuen2017 G

SASH1

AU1955302

chr6:
149004953-149004953

C

A

intergenic

De novo

-

Yuen2017 G

SASH1

14496.p1

chr6:
148808258-148808258

T

C

intronic

De novo

-

Turner2016 G

SASH1

TAS_F9002Y

chr6:
148664345-148664345

G

A

exonic

De novo

nonsynonymous SNV

NM_015278

c.G142A

p.V48M

15.86

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SASH1

1-0539-003

chr6:
148835274-148835274

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SASH1

2-1337-003

chr6:
148870864-148870864

C

G

UTR3

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SASH1

14664.p1

chr6:
148711366-148711366

C

T

exonic

De novo

nonsynonymous SNV

NM_015278

c.C253T

p.R85W

26.1

1.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SASH1

11685.p1

chr6:
148835535-148835535

C

T

exonic

De novo

nonsynonymous SNV

NM_015278

c.C805T

p.R269C

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SASH1

NP063

chr6:
148865561-148865561

A

C

exonic

De novo

synonymous SNV

NM_015278

c.A2955C

p.P985P

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SASH1

Cukier2014:37994

chr6:
148865690-148865690

C

A

exonic

Unknown

nonsynonymous SNV

NM_015278

c.C3084A

p.S1028R

15.15

0.0052

Cukier2014 E

SASH1

AU4237304

chr6:
148756287-148756287

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SASH1

1-0253-005

chr6:
148804113-148804113

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SASH1

2-1094-004

chr6:
148844112-148844112

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SASH1

AU076705

chr6:
148824228-148824228

C

T

intronic

De novo

-

Yuen2017 G

SASH1

11685_p1

chr6:
148835535-148835535

C

T

exonic

De novo

nonsynonymous SNV

NM_015278

c.C805T

p.R269C

32.0

-

Fu2022 E

SASH1

14297.p1

chr6:
148865495-148865495

C

T

exonic

De novo

synonymous SNV

NM_015278

c.C2889T

p.P963P

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

SASH1

37331

chr6:
148711366-148711366

C

T

exonic

De novo

nonsynonymous SNV

NM_015278

c.C253T

p.R85W

26.1

1.0E-4

Fu2022 E
Trost2022 G

SASH1

7-0250-003

chr6:
148997920-148997920

A

G

intergenic

De novo

-

Yuen2017 G

SASH1

PN400486

chr6:
148869462-148869462

G

A

exonic

Unknown

nonsynonymous SNV

NM_015278

c.G3512A

p.R1171Q

32.0

0.0013

Leblond2019 E

SASH1

mAGRE1685

chr6:
148865177-148865177

G

GACAGAAC

exonic

Maternal

frameshift insertion

NM_015278

c.2571_2572insACAGAAC

p.V857fs

-

Cirnigliaro2023 G

SASH1

mAGRE1684

chr6:
148865177-148865177

G

GACAGAAC

exonic

Maternal

frameshift insertion

NM_015278

c.2571_2572insACAGAAC

p.V857fs

-

Cirnigliaro2023 G

SASH1

mAGRE1682

chr6:
148865177-148865177

G

GACAGAAC

exonic

Maternal

frameshift insertion

NM_015278

c.2571_2572insACAGAAC

p.V857fs

-

Cirnigliaro2023 G

SASH1

AU3727302

chr6:
148940615-148940615

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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