Variant Results

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Results for "ANKRD13D"

Variant Events: 11

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

ANKRD13D

7-0242-003

chr11:
67065836-67065836

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKRD13D

JASD_Fam0145

chr11:
67056954-67056954

T

C

exonic

De novo

nonsynonymous SNV

NM_207354

c.T23C

p.F8S

18.33

-

Takata2018 E

ANKRD13D

SP0043789

chr11:
67057445-67057445

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ANKRD13D

80001100728

chr11:
67059475-67059475

G

A

exonic

De novo

synonymous SNV

NM_207354

c.G555A

p.L185L

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ANKRD13D

AU3302302

chr11:
67060136-67060136

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANKRD13D

mAGRE1403

chr11:
67069785-67069789

GTCAC

G

exonic

Maternal

frameshift deletion

NM_207354

c.1801_1804del

p.S601fs

-

-

Cirnigliaro2023 G

ANKRD13D

MSSNG00412-003

chr11:
67055948-67055948

G

A

upstream

De novo

-

-

Trost2022 G

ANKRD13D

mAGRE1401

chr11:
67069785-67069789

GTCAC

G

exonic

Maternal

frameshift deletion

NM_207354

c.1801_1804del

p.S601fs

-

-

Cirnigliaro2023 G

ANKRD13D

2-0197-003

chr11:
67059560-67059560

G

A

exonic

De novo

nonsynonymous SNV

NM_207354

c.G640A

p.A214T

25.4

Yuen2015 G

ANKRD13D

iHART1403

chr11:
67069785-67069789

GTCAC

G

exonic

Maternal

frameshift deletion

NM_207354

c.1801_1804del

p.S601fs

-

-

Ruzzo2019 G

ANKRD13D

iHART1401

chr11:
67069785-67069789

GTCAC

G

exonic

Maternal

frameshift deletion

NM_207354

c.1801_1804del

p.S601fs

-

-

Ruzzo2019 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
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