Variant Results

or

Results for "PARP6"

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

PARP6

2-1373-003

chr15:
72538187-72538187

G

C

intronic

De novo

-

Yuen2017 G

PARP6

SSC06966

chr15:
72535063-72535068

CTTCAT

C

intronic

De novo

-

Trost2022 G

PARP6

13038.p1

Complex Event; expand row to view variants

De novo

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PARP6

AU2320301

chr15:
72564355-72564358

TGGA

T

upstream

De novo

-

Trost2022 G

PARP6

1-0024-003

chr15:
72543821-72543821

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PARP6

2-0297-003

chr15:
72565146-72565146

G

T

intergenic

De novo

-

Yuen2017 G

PARP6

iHART3004

chr15:
72542407-72542408

GA

G

exonic

Maternal

frameshift deletion

NM_020214

c.1444delT

p.S482fs

-

Ruzzo2019 G

PARP6

AU2793302

chr15:
72542407-72542408

GA

G

exonic

Maternal

frameshift deletion

NM_020214

c.1444delT

p.S482fs

-

Cirnigliaro2023 G

PARP6

iHART3007

chr15:
72542407-72542408

GA

G

exonic

Maternal

frameshift deletion

NM_020214

c.1444delT

p.S482fs

-

Ruzzo2019 G

PARP6

AU2793301

chr15:
72542407-72542408

GA

G

exonic

Maternal

frameshift deletion

NM_020214

c.1444delT

p.S482fs

-

Cirnigliaro2023 G

PARP6

AU4013303

chr15:
72565757-72565757

G

C

intergenic

De novo

-

Trost2022 G
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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