Variant Results

or

or

Results for "SETD1A"

Variant Events: 18

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

SETD1A

AU2525302

chr16:
30980178-30980178

C

T

intronic

De novo

-

-

Yuen2017 G

SETD1A

SP0030323

chr16:
30982998-30982998

A

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.A3316T

p.T1106S

4.536

-

Fu2022 E

SETD1A

SP0063574

chr16:
30980962-30980962

C

G

exonic

De novo

nonsynonymous SNV

NM_014712

c.C2968G

p.R990G

8.338

Fu2022 E

SETD1A

13815.p1

chr16:
30992032-30992032

C

T

intronic

De novo

-

-

Satterstrom2020 E

SETD1A

200675290@1082034269

chr16:
30975596-30975596

C

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.C821T

p.T274M

16.58

Satterstrom2020 E

SETD1A

14402.p1

chr16:
30981006-30981006

G

A

exonic

De novo

synonymous SNV

NM_014712

c.G3012A

p.S1004S

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SETD1A

1-0065-004

chr16:
30991353-30991353

G

A

exonic

De novo

nonsynonymous SNV

NM_014712

c.G4246A

p.E1416K

8.889

Yuen2017 G

SETD1A

Chen2017:7

chr16:
30975596-30975596

C

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.C821T

p.T274M

16.58

Chen2017 E

SETD1A

36161

chr16:
30981006-30981006

G

A

exonic

De novo

synonymous SNV

NM_014712

c.G3012A

p.S1004S

-

-

Fu2022 E

SETD1A

200675290_1082034269

chr16:
30975596-30975596

C

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.C821T

p.T274M

16.58

Fu2022 E

SETD1A

SP0147773

chr16:
30992057-30992059

CAG

C

splicing

De novo

splicing

-

Fu2022 E

SETD1A

Lim2017:36161

chr16:
30981006-30981006

G

A

exonic

De novo

synonymous SNV

NM_014712

c.G3012A

p.S1004S

-

-

Lim2017 E

SETD1A

DEASD_1060_001

chr16:
30991042-30991042

C

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.C3935T

p.A1312V

4.374

Fu2022 E
Satterstrom2020 E

SETD1A

SP0063824

chr16:
30978829-30978829

G

A

exonic

De novo

nonsynonymous SNV

NM_014712

c.G2690A

p.R897Q

19.07

-

Fu2022 E

SETD1A

11143.p1

chr16:
30978401-30978401

T

C

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

SETD1A

SP0053068

chr16:
30977683-30977683

G

C

exonic

De novo

nonsynonymous SNV

NM_014712

c.G2481C

p.W827C

15.2

-

Fu2022 E

SETD1A

7-0219-003

chr16:
30978879-30978879

C

T

exonic

De novo

nonsynonymous SNV

NM_014712

c.C2740T

p.P914S

21.5

-

Yuen2017 G

SETD1A

SP0031524

chr16:
30976438-30976438

T

TC

exonic

De novo

frameshift insertion

NM_014712

c.1376dupC

p.S459fs

-

-

Feliciano2019 E
Fu2022 E

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
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