Variant Results

or

Results for "ADCY6"

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

ADCY6

F10314-4

chr12:
49167420-49167420

C

T

exonic

De novo

nonsynonymous SNV

NM_015270

c.G2453A

p.G818E

11.06

-

Satterstrom2020 E

ADCY6

PN400506

chr12:
49165650-49165650

C

T

exonic

Unknown

nonsynonymous SNV

NM_015270

c.G2894A

p.R965H

20.0

0.001

Leblond2019 E

ADCY6

74-0355

chr12:
49173603-49173603

C

T

intronic

De novo

-

Michaelson2012 G

ADCY6

PN400372

chr12:
49165650-49165650

C

T

exonic

Unknown

nonsynonymous SNV

NM_015270

c.G2894A

p.R965H

20.0

0.001

Leblond2019 E

ADCY6

1-0496-003

chr12:
49168253-49168253

G

A

exonic

De novo

nonsynonymous SNV

NM_015270

c.C2215T

p.R739W

20.6

7.416E-5

Yuen2016 G
Yuen2017 G

ADCY6

PN400241

chr12:
49165650-49165650

C

T

exonic

Unknown

nonsynonymous SNV

NM_015270

c.G2894A

p.R965H

20.0

0.001

Leblond2019 E

ADCY6

PN400127

chr12:
49165650-49165650

C

T

exonic

Unknown

nonsynonymous SNV

NM_015270

c.G2894A

p.R965H

20.0

0.001

Leblond2019 E

ADCY6

PN400521

chr12:
49165650-49165650

C

T

exonic

Unknown

nonsynonymous SNV

NM_015270

c.G2894A

p.R965H

20.0

0.001

Leblond2019 E

ADCY6

12295.p1

chr12:
49177062-49177062

T

G

exonic

De novo

synonymous SNV

NM_015270

c.A156C

p.P52P

-

7.251E-5

Satterstrom2020 E

ADCY6

12794.p1

chr12:
49169418-49169418

G

C

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADCY6

14496.p1

chr12:
49182732-49182732

G

C

UTR5

De novo

-

Turner2016 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
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