Variant Results

or

or

Results for "COL16A1"

Variant Events: 21

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

COL16A1

SP0077200

chr1:
32151331-32151331

T

C

exonic

De novo

nonsynonymous SNV

NM_001856

c.A1925G

p.Q642R

5.767

Fu2022 E
Trost2022 G
Zhou2022 GE

COL16A1

SP0010732

chr1:
32118364-32118364

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001856

c.C4703T

p.P1568L

17.4

-

Feliciano2019 E

COL16A1

SP0118519

chr1:
32164190-32164190

C

A

exonic

De novo

nonsynonymous SNV

NM_001856

c.G284T

p.G95V

18.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

COL16A1

SP0147378

chr1:
32128005-32128005

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

COL16A1

SP0060679

chr1:
32127109-32127109

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

COL16A1

MT_40.3

chr1:
32166423-32166423

G

C

intronic

De novo

-

-

Trost2022 G

COL16A1

06C59211

chr1:
32118283-32118283

G

A

exonic

De novo

nonsynonymous SNV

NM_001856

c.C4784T

p.P1595L

23.6

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL16A1

72-1921

chr1:
32160798-32160798

G

A

exonic

Inherited

nonsynonymous SNV

NM_001856

c.C970T

p.R324W

10.35

Patowary2019 E

COL16A1

DEASD_1097_001

chr1:
32145676-32145676

G

T

exonic

De novo

synonymous SNV

NM_001856

c.C2637A

p.P879P

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL16A1

SP0035858

chr1:
32157559-32157559

A

C

intronic

De novo

-

-

Fu2022 E

COL16A1

mAGRE5374

chr1:
32138230-32138230

C

CAA

exonic

Maternal

frameshift insertion

NM_001856

c.2984_2985insTT

p.L995fs

-

-

Cirnigliaro2023 G

COL16A1

mAGRE5372

chr1:
32138230-32138230

C

CAA

exonic

Maternal

frameshift insertion

NM_001856

c.2984_2985insTT

p.L995fs

-

-

Cirnigliaro2023 G

COL16A1

CC1247_202

chr1:
32155407-32155407

T

G

exonic

De novo

nonsynonymous SNV

NM_001856

c.A1555C

p.N519H

11.96

-

Fu2022 E

COL16A1

SP0009827

chr1:
32136278-32136278

A

C

intronic

De novo

-

-

Trost2022 G

COL16A1

SP0009187

chr1:
32136278-32136278

A

C

intronic

De novo

-

-

Trost2022 G

COL16A1

2-1823-004

chr1:
32160874-32160874

C

T

intronic

De novo

-

Trost2022 G

COL16A1

3-0091-000

chr1:
32156439-32156449

GCAGTCACAGA

G

intronic

De novo

-

-

Trost2022 G

COL16A1

2-1425-003

chr1:
32138033-32138033

C

G

exonic

De novo

nonsynonymous SNV

NM_001856

c.G3089C

p.G1030A

16.54

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

COL16A1

1-0305-004

chr1:
32166468-32166468

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

COL16A1

CC1330_201

chr1:
32145444-32145444

C

T

exonic

De novo

synonymous SNV

NM_001856

c.G2679A

p.P893P

-

Fu2022 E

COL16A1

MSSNG00206-003

chr1:
32119687-32119687

C

T

intronic

De novo

-

Trost2022 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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