Variant Results

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or

Results for "CRYBG3"

Variant Events: 14

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

CRYBG3

SP0078653

chr3:
97596659-97596659

T

C

exonic

De novo

synonymous SNV

NM_153605

c.T6621C

p.N2207N

-

-

Fu2022 E

CRYBG3

SP0127798

chr3:
97652553-97652553

T

A

exonic

De novo

nonsynonymous SNV

NM_153605

c.T8257A

p.S2753T

13.86

-

Fu2022 E

CRYBG3

G01-GEA-330_HI

chr3:
97593390-97593390

A

G

exonic

De novo

nonsynonymous SNV

NM_153605

c.A3352G

p.I1118V

1.758

-

Fu2022 E
Satterstrom2020 E

CRYBG3

M18372

Complex Event; expand row to view variants

Unknown

frameshift deletion, frameshift substitution

NM_153605
NM_153605

c.7302delC
c.7301_7302G

p.Y2434fs
N/A

-

-

Guo2018 T
Wang2016 T

CRYBG3

14500.p1

chr3:
97611837-97611841

TGTGA

T

splicing

De novo

splicing

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

CRYBG3

SP0066081

chr3:
97605427-97605427

C

G

intronic

De novo

-

-

Fu2022 E

CRYBG3

M08458

chr3:
97599944-97599944

C

T

exonic

Paternal

stopgain

NM_153605

c.C7033T

p.R2345X

38.0

Guo2018 T
Wang2016 T

CRYBG3

1-0627-004

chr3:
97610605-97610605

G

A

intronic

De novo

-

-

Yuen2017 G

CRYBG3

DEASD_2037_001

chr3:
97655637-97655637

C

T

exonic

De novo

nonsynonymous SNV

NM_153605

c.C8390T

p.A2797V

15.4

-

Fu2022 E

CRYBG3

AU3761302

chr3:
97586898-97586898

C

A

intronic

De novo

-

-

Yuen2017 G

CRYBG3

36209

chr3:
97611837-97611841

TGTGA

T

splicing

De novo

splicing

-

Fu2022 E

CRYBG3

11717.p1

chr3:
97600077-97600077

A

G

intronic

De novo

-

-

Krumm2015 E

CRYBG3

GX0299.p1

chr3:
97593884-97593885

AG

A

exonic

Paternal

frameshift deletion

NM_153605

c.3847delG

p.V1283fs

-

-

Guo2018 T

CRYBG3

M26445

chr3:
97634457-97634459

GCT

G

exonic

Maternal

frameshift deletion

NM_153605

c.8119_8120del

p.L2707fs

-

-

Guo2018 T

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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