Variant Results

or

Results for "RFX8"

Variant Events: 24

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

RFX8

2-0289-003

chr2:
102035290-102035290

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RFX8

SP0052616

chr2:
102031315-102031315

C

T

splicing

De novo

splicing

18.85

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RFX8

1-0511-003

chr2:
102260346-102260365

TTTTGTTTGTTTGTTTGTTT

TTTTGTTTGTTTGTTT

intergenic

De novo

-

Yuen2017 G

RFX8

1-0546-003

chr2:
102225960-102225960

T

G

intergenic

De novo

-

Yuen2017 G

RFX8

AU011704

chr2:
102204143-102204143

G

T

intergenic

De novo

-

Yuen2017 G

RFX8

MSSNG00062-003

chr2:
102062871-102062871

C

G

intronic

De novo

-

Trost2022 G

RFX8

2-1287-003

chr2:
102062971-102062973

AGT

A

intronic

De novo

-

Trost2022 G

RFX8

AU059903

chr2:
102247803-102247805

AGT

A

intergenic

De novo

-

Yuen2017 G

RFX8

AU4145301

chr2:
102064887-102064887

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RFX8

MSSNG00353-004

chr2:
102040506-102040506

C

T

intronic

De novo

-

Trost2022 G

RFX8

1-0887-003

chr2:
102060419-102060419

G

A

intronic

De novo

-

Trost2022 G

RFX8

12641_p1

chr2:
102014147-102014147

C

T

exonic

De novo

nonsynonymous SNV

NM_001145664

c.G1285A

p.A429T

0.007

-

Fu2022 E

RFX8

MSSNG00219-003

chr2:
102074437-102074437

G

A

intronic

De novo

-

Trost2022 G

RFX8

AU1952305

chr2:
102312425-102312428

TTCT

TT

intergenic

De novo

-

Yuen2017 G

RFX8

MSSNG00424-003

chr2:
102085597-102085597

T

C

intronic

De novo

-

Trost2022 G

RFX8

5-1003-003

chr2:
102065827-102065832

GGGGAA

TCCCAG

intronic

De novo

-

Trost2022 G

RFX8

1-0652-004

chr2:
102189040-102189040

C

T

intergenic

De novo

-

Yuen2017 G

RFX8

SSC03560

chr2:
102083246-102083246

A

C

exonic

De novo

nonsynonymous SNV

NM_001145664

c.T65G

p.F22C

16.45

-

Fu2022 E
Lim2017 E
Trost2022 G

RFX8

5-1003-003

chr2:
102065835-102065839

CCATA

AGGC

intronic

De novo

-

Trost2022 G

RFX8

2-1237-003

chr2:
102138098-102138107

AATGGGTCAT

AAT

intergenic

De novo

-

Yuen2017 G

RFX8

AU3763305

chr2:
102098949-102098949

A

T

intergenic

De novo

-

Yuen2017 G

RFX8

12641.p1

chr2:
102014147-102014147

C

T

exonic

De novo

nonsynonymous SNV

NM_001145664

c.G1285A

p.A429T

0.007

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

RFX8

11962.p1

chr2:
102083246-102083246

A

C

exonic

De novo

nonsynonymous SNV

NM_001145664

c.T65G

p.F22C

16.45

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

RFX8

2-1178-003

chr2:
102233767-102233767

G

T

intergenic

De novo

-

Yuen2016 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
	More