Variant Results

or

Results for "AHI1"

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

AHI1

1-0067-004

chr6:
135770395-135770395

T

G

intronic

De novo

-

Yuen2017 G

AHI1

14505.p1

chr6:
135754219-135754219

G

T

exonic

De novo

synonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C2212A
c.C2212A
c.C2212A
c.C2212A

p.R738R
p.R738R
p.R738R
p.R738R

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

AHI1

1-0556-003

chr6:
135789775-135789775

A

T

intronic

De novo

-

Yuen2017 G

AHI1

11608.p1

chr6:
135774505-135774505

G

A

exonic

De novo

nonsynonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C1414T
c.C1414T
c.C1414T
c.C1414T

p.R472W
p.R472W
p.R472W
p.R472W

17.95

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

AHI1

SP0012335

chr6:
135769554-135769554

G

A

exonic

De novo

synonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C1500T
c.C1500T
c.C1500T
c.C1500T

p.Y500Y
p.Y500Y
p.Y500Y
p.Y500Y

-

8.296E-6

Fu2022 E

AHI1

AU011704

chr6:
135640596-135640596

G

C

intronic

De novo

-

Yuen2017 G

AHI1

AU2988303

chr6:
135684775-135684775

G

A

intronic

De novo

-

Yuen2017 G

AHI1

AU-22000

chr6:
135732649-135732649

T

C

exonic

Inherited

nonsynonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.A2798G
c.A2798G
c.A2798G
c.A2798G

p.Y933C
p.Y933C
p.Y933C
p.Y933C

16.48

0.004

Yu2013 E

AHI1

1-0274-003

chr6:
135792710-135792710

C

CAAATT

intronic

De novo

-

Yuen2017 G

AHI1

1-0708-003

chr6:
135663117-135663117

A

C

intronic

De novo

-

Yuen2017 G

AHI1

70236

chr6:
135774505-135774505

G

A

exonic

De novo

nonsynonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C1414T
c.C1414T
c.C1414T
c.C1414T

p.R472W
p.R472W
p.R472W
p.R472W

17.95

-

Fu2022 E

AHI1

G01-GEA-184-HI

chr6:
135644406-135644406

G

A

exonic

De novo

synonymous SNV

NM_001134830
NM_017651
NM_001134831

c.C3222T
c.C3222T
c.C3222T

p.R1074R
p.R1074R
p.R1074R

7.6

8.544E-6

Fu2022 E
Satterstrom2020 E

AHI1

AU4260303

chr6:
135802215-135802215

C

A

intronic

De novo

-

Yuen2017 G

AHI1

iHART1064

chr6:
135754219-135754219

G

A

exonic

Maternal

stopgain

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C2212T
c.C2212T
c.C2212T
c.C2212T

p.R738X
p.R738X
p.R738X
p.R738X

16.21

1.657E-5

Ruzzo2019 G

AHI1

iHART1629

chr6:
135752437-135752437

G

C

exonic

Maternal

stopgain

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C2282G
c.C2282G
c.C2282G
c.C2282G

p.S761X
p.S761X
p.S761X
p.S761X

36.0

-

Ruzzo2019 G

AHI1

74-0117

chr6:
135640596-135640596

G

C

intronic

De novo

-

Michaelson2012 G

AHI1

Lim2017:70236

chr6:
135774505-135774505

G

A

exonic

De novo

nonsynonymous SNV

NM_001134830
NM_001134832
NM_017651
NM_001134831

c.C1414T
c.C1414T
c.C1414T
c.C1414T

p.R472W
p.R472W
p.R472W
p.R472W

17.95

-

Lim2017 E

AHI1

iHART2116

chr6:
135611560-135611560

C

T

splicing

Paternal

splicing

-

8.286E-6

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
Curation notes	View
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