Variant Results

or

or

Results for "RFX6"

Variant Events: 23

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

RFX6

AU2793303

chr6:
117402772-117402772

C

T

intergenic

De novo

-

-

Yuen2017 G

RFX6

2-1382-003

chr6:
117322078-117322078

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RFX6

AU3801301

chr6:
117265367-117265372

CCTCTC

CCTC

intergenic

De novo

-

-

Yuen2017 G

RFX6

AU2320301

chr6:
117242116-117242116

A

C

intronic

De novo

-

-

Trost2022 G

RFX6

7-0183-003

chr6:
117302629-117302629

G

A

intergenic

De novo

-

-

Yuen2017 G

RFX6

5-5011-003

chr6:
117249835-117249835

C

T

intronic

De novo

-

-

Trost2022 G

RFX6

1-0494-003

chr6:
117528809-117528809

C

A

intergenic

De novo

-

-

Yuen2017 G

RFX6

1-0441-003

chr6:
117387016-117387016

C

T

intergenic

De novo

-

-

Yuen2017 G

RFX6

1-0068-003

chr6:
117288766-117288766

C

T

intergenic

De novo

-

-

Yuen2017 G

RFX6

2-0102-004

chr6:
117392047-117392047

T

G

intergenic

De novo

-

-

Yuen2017 G

RFX6

AU3859301

chr6:
117379725-117379725

T

C

intergenic

De novo

-

-

Yuen2017 G

RFX6

Shi2013:2

chr6:
117248565-117248565

C

T

exonic

Inherited

nonsynonymous SNV

NM_173560

c.C2261T

p.P754L

14.92

Shi2013 G

RFX6

1-0494-003A

chr6:
117528809-117528809

C

A

intergenic

De novo

-

-

Yuen2017 G

RFX6

AU060703

chr6:
117471305-117471305

C

T

intergenic

De novo

-

-

Yuen2017 G

RFX6

5-0054-003

chr6:
117303436-117303436

C

T

intergenic

De novo

-

-

Yuen2017 G

RFX6

7-0077-003

chr6:
117333824-117333824

A

G

intergenic

De novo

-

-

Yuen2017 G

RFX6

7-0354-005

chr6:
117201000-117201000

G

T

intronic

De novo

-

-

Trost2022 G

RFX6

SP0154011

chr6:
117237179-117237179

G

A

exonic

De novo

synonymous SNV

NM_173560

c.G789A

p.T263T

-

Trost2022 G

RFX6

Shi2013:1

chr6:
117248565-117248565

C

T

exonic

Inherited

nonsynonymous SNV

NM_173560

c.C2261T

p.P754L

14.92

Shi2013 G

RFX6

3-0330-000

chr6:
117248533-117248533

C

A

exonic

De novo

nonsynonymous SNV

NM_173560

c.C2229A

p.S743R

15.05

-

Tammimies2015 E

RFX6

AU4159302

chr6:
117239464-117239464

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RFX6

1-0447-003

chr6:
117206585-117206598

TACACACACACACA

TACACACACACA

intronic

De novo

-

-

Yuen2017 G

RFX6

Wang2023:150

chr6:
117246778-117246778

T

C

exonic

De novo

nonsynonymous SNV

NM_173560

c.T1841C

p.L614P

13.29

-

Wang2023 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
	More