Variant Results

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Results for "ANKRD27"

Variant Events: 13

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

ANKRD27

2-1116-003

chr19:
33135432-33135432

T

A

intronic

De novo

-

-

Yuen2016 G

ANKRD27

AU1687303

chr19:
33091088-33091088

A

G

intronic

De novo

-

-

Yuen2017 G

ANKRD27

11431.p1

chr19:
33113320-33113331

AGAGCTACCTTT

A

exonic

De novo

frameshift deletion

NM_032139

c.1824_1827del

p.S608fs

-

-

Wilfert2021 G

ANKRD27

1483JS0011

chr19:
33135343-33135343

A

G

exonic

De novo

nonsynonymous SNV

NM_032139

c.T413C

p.I138T

24.4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ANKRD27

PN400474

chr19:
33149861-33149861

G

A

exonic

Unknown

nonsynonymous SNV

NM_032139

c.C61T

p.R21C

19.3

Leblond2019 E

ANKRD27

Kim2020:B21

chr19:
33119026-33119026

G

C

exonic

De novo

nonsynonymous SNV

NM_032139

c.C1383G

p.D461E

21.0

-

Kim2020 E

ANKRD27

AU1687302

chr19:
33091088-33091088

A

G

intronic

De novo

-

-

Yuen2017 G

ANKRD27

Chen2017:71

chr19:
33135343-33135343

A

G

exonic

De novo

nonsynonymous SNV

NM_032139

c.T413C

p.I138T

24.4

Chen2017 E

ANKRD27

SP0124694

chr19:
33134216-33134216

C

T

exonic

De novo

nonsynonymous SNV

NM_032139

c.G682A

p.V228M

14.31

Fu2022 E

ANKRD27

iHART2472

chr19:
33095277-33095277

C

CTCGTGCAGCGCTGTGTTGCCCTTATT

exonic

Paternal

frameshift insertion

NM_032139

c.2546_2547insAATAAGGGCAACACAGCGCTGCACGA

p.E849fs

-

Ruzzo2019 G

ANKRD27

11002.p1

chr19:
33091980-33091980

G

A

intronic

De novo

-

-

Turner2016 G

ANKRD27

PN400325

chr19:
33149861-33149861

G

A

exonic

Unknown

nonsynonymous SNV

NM_032139

c.C61T

p.R21C

19.3

Leblond2019 E

ANKRD27

08C76427

chr19:
33135343-33135343

A

G

exonic

De novo

nonsynonymous SNV

NM_032139

c.T413C

p.I138T

24.4

Satterstrom2020 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
Curation notes	View
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