Variant Results

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Results for "C1orf112"

Variant Events: 13

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

C1orf112

SP0045034

chr1:
169773420-169773420

A

G

intronic

De novo

-

Fu2022 E

C1orf112

mAGRE6236

chr1:
169777033-169777033

T

G

exonic

Paternal

stopgain

NM_018186

c.T665G

p.L222X

42.0

Cirnigliaro2023 G

C1orf112

7-0335-003

chr1:
169821914-169821914

T

TTA

intronic

De novo

-

-

Trost2022 G
Trost2022 G

C1orf112

11568.p1

chr1:
169820183-169820183

G

GC

intronic

De novo

-

-

Krumm2015 E

C1orf112

1-0197-003

chr1:
169801493-169801498

CTTCTT

C

intronic

De novo

-

-

Yuen2017 G

C1orf112

1-0489-003

chr1:
169796544-169796544

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

C1orf112

MT_38.3

chr1:
169805627-169805631

CTTCT

C

intronic

De novo

-

-

Trost2022 G

C1orf112

AU2794301

chr1:
169798313-169798317

TAAAC

T

intronic

De novo

-

-

Trost2022 G

C1orf112

7-0342-003

chr1:
169819221-169819221

A

C

intronic

De novo

-

-

Trost2022 G
Trost2022 G

C1orf112

MSSNG00028-004

chr1:
169808416-169808416

G

A

intronic

De novo

-

-

Trost2022 G

C1orf112

1-0018-004

chr1:
169775757-169775757

T

G

intronic

De novo

-

-

Trost2022 G

C1orf112

AU2463301

chr1:
169785795-169785795

C

T

intronic

De novo

-

-

Trost2022 G

C1orf112

2-1763-003

chr1:
169780791-169780791

G

C

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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