Variant Results

or

or

Results for "C16orf45"

Variant Events: 28

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

C16orf45

5-0097-003

chr16:
15542600-15542600

C

T

intronic

De novo

-

-

Trost2022 G

C16orf45

REACH000533

chr16:
15573769-15573769

C

T

intronic

De novo

-

-

Trost2022 G

C16orf45

2-0704-003

chr16:
15540043-15540043

T

G

intronic

De novo

-

-

Trost2022 G

C16orf45

2-1184-003

chr16:
15681718-15681731

ATGTGTGTGTGTGT

ATGTGTGTGTGT

UTR3

De novo

-

-

Yuen2017 G

C16orf45

AU031204

chr16:
15628410-15628415

TAAAAA

T

intronic

De novo

-

-

Trost2022 G

C16orf45

1-1160-003

chr16:
15632123-15632123

A

G

intronic

De novo

-

-

Trost2022 G

C16orf45

13748.p1

chr16:
15574307-15574307

C

T

intronic

De novo

-

-

Werling2018 G

C16orf45

2-1261-003

chr16:
15601420-15601420

G

T

intronic

De novo

-

-

Trost2022 G

C16orf45

REACH000141

chr16:
15609800-15609800

C

T

intronic

De novo

-

-

Trost2022 G

C16orf45

1-0772-003

chr16:
15566454-15566455

TC

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf45

iHART1883

chr16:
15675072-15675072

A

G

splicing

Maternal

splicing

22.2

Ruzzo2019 G

C16orf45

4-0037-004

chr16:
15591192-15591192

T

C

intronic

De novo

-

-

Trost2022 G

C16orf45

2-1261-003

chr16:
15601415-15601417

TGT

A

intronic

De novo

-

-

Trost2022 G

C16orf45

MSSNG00396-003

chr16:
15578469-15578469

G

A

intronic

De novo

-

-

Trost2022 G

C16orf45

iHART1884

chr16:
15675072-15675072

A

G

splicing

Maternal

splicing

22.2

Ruzzo2019 G

C16orf45

MSSNG00098-003

chr16:
15581498-15581498

G

A

intronic

De novo

-

-

Trost2022 G

C16orf45

7-0365-004

chr16:
15654218-15654218

G

A

intronic

De novo

-

-

Trost2022 G

C16orf45

5-0133-003

chr16:
15656929-15656929

T

TTG

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf45

REACH000597

chr16:
15644834-15644834

G

T

intronic

De novo

-

-

Trost2022 G

C16orf45

MSSNG00040-003

chr16:
15653808-15653808

A

C

intronic

De novo

-

-

Trost2022 G

C16orf45

4-0062-003

chr16:
15638380-15638381

GT

AAA

intronic

De novo

-

-

Trost2022 G

C16orf45

1-0618-003

chr16:
15643825-15643825

G

T

intronic

De novo

-

-

Trost2022 G

C16orf45

2-1357-003

chr16:
15680686-15680686

G

A

exonic

De novo

synonymous SNV

NM_001142469
NM_033201

c.G564A
c.G615A

p.X188X
p.X205X

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

C16orf45

AU2410301

chr16:
15610722-15610722

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf45

mAGRE1884

chr16:
15675072-15675072

A

G

splicing

Maternal

splicing

22.2

Cirnigliaro2023 G

C16orf45

mAGRE1883

chr16:
15675072-15675072

A

G

splicing

Maternal

splicing

22.2

Cirnigliaro2023 G

C16orf45

1-0597-003

chr16:
15647819-15647819

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C16orf45

7-0247-003

chr16:
15584438-15584438

C

A

intronic

De novo

-

-

Trost2022 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
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