Variant Results

or

or

Results for "SSC4D"

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

SSC4D

13393.p1

chr7:
76033527-76033527

G

A

intronic

De novo

-

-

Turner2016 G

SSC4D

SP0140642

chr7:
76030296-76030296

G

C

intronic

De novo

-

-

Trost2022 G
Trost2022 G

SSC4D

SP0225240

chr7:
76019367-76019367

C

T

UTR3

De novo

-

Trost2022 G

SSC4D

SP0081259

chr7:
76019697-76019697

G

C

intronic

De novo

-

Trost2022 G

SSC4D

mAGRE2486

chr7:
76029910-76029910

T

C

splicing

Maternal

splicing

15.85

-

Cirnigliaro2023 G

SSC4D

mAGRE2485

chr7:
76029910-76029910

T

C

splicing

Maternal

splicing

15.85

-

Cirnigliaro2023 G

SSC4D

1-0606-003

chr7:
76021454-76021454

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SSC4D

SP0040480

chr7:
76019651-76019651

G

A

exonic

De novo

nonsynonymous SNV

NM_080744

c.C1453T

p.R485C

32.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SSC4D

iHART2485

chr7:
76029910-76029910

T

C

splicing

Maternal

splicing

15.85

-

Ruzzo2019 G

SSC4D

mAGRE5228

chr7:
76027121-76027122

GC

G

exonic

Maternal

frameshift deletion

NM_080744

c.581delG

p.G194fs

-

Cirnigliaro2023 G

SSC4D

iHART2486

chr7:
76029910-76029910

T

C

splicing

Maternal

splicing

15.85

-

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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