Variant Results

or

Results for "XRCC5"

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

XRCC5

11080.p1

chr2:
217001915-217001915

C

T

exonic

De novo

synonymous SNV

NM_021141

c.C1218T

p.G406G

-

3.298E-5

Krumm2015 E
Zhou2022 GE

XRCC5

7-0462-003

chr2:
217040240-217040240

A

T

intronic

De novo

-

Trost2022 G

XRCC5

REACH000292

chr2:
217040923-217040923

C

T

intronic

De novo

-

Trost2022 G

XRCC5

1-0319-004

chr2:
216985495-216985495

G

A

intronic

De novo

-

Trost2022 G

XRCC5

MSSNG00408-003

chr2:
217020049-217020049

A

G

intronic

De novo

-

Trost2022 G

XRCC5

AU030104

chr2:
217006268-217006268

T

C

intronic

De novo

-

Yuen2017 G

XRCC5

AU3190305

chr2:
217066163-217066163

A

T

intronic

De novo

-

Yuen2017 G

XRCC5

21.s1

chr2:
217024745-217024745

G

A

intronic

De novo

-

An2014 E

XRCC5

AU1860302

chr2:
217025401-217025401

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

XRCC5

2-1579-003

chr2:
217068774-217068774

C

G

intronic

De novo

-

Trost2022 G

XRCC5

SP0202392

chr2:
217069020-217069020

A

G

intronic

De novo

-

1.65E-5

Trost2022 G

XRCC5

2-1266-003

chr2:
216980201-216980201

G

A

intronic

De novo

-

Yuen2017 G

XRCC5

7-0059-003

chr2:
217055012-217055013

GA

TT

exonic

De novo

nonframeshift substitution

NM_021141

c.1899_1900TT

N/A

-

Trost2022 G

XRCC5

REACH000597

chr2:
217064244-217064244

A

G

intronic

De novo

-

Trost2022 G

XRCC5

1-0173-004

chr2:
217014945-217014945

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

XRCC5

1-0413-003

chr2:
217078634-217078634

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XRCC5

G01-GEA-267-HI

chr2:
216981465-216981465

G

C

exonic

De novo

nonsynonymous SNV

NM_021141

c.G219C

p.Q73H

22.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

XRCC5

14450.p1

chr2:
217055072-217055072

G

A

intronic

Mosaic, De novo

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 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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