Variant Results

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Results for "ZFYVE19"

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

ZFYVE19

SP0088506

chr15:
41102487-41102487

T

G

intronic

De novo

-

-

Trost2022 G

ZFYVE19

SP0140738

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

ZFYVE19

SP0146418

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

ZFYVE19

SP0111341

chr15:
41102486-41102486

T

G

intronic

De novo

-

-

Trost2022 G

ZFYVE19

mAGRE1747

chr15:
41099938-41099946

GGTGAGGGT

G

exonic

Maternal

frameshift deletion

NM_001077268
NM_001258420

c.152_159del
c.152_159del

p.G51fs
p.G51fs

-

-

Cirnigliaro2023 G

ZFYVE19

1-0330-003

chr15:
41103968-41103968

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZFYVE19

iHART1747

chr15:
41099938-41099946

GGTGAGGGT

G

exonic

Maternal

frameshift deletion

NM_001077268
NM_001258420

c.152_159del
c.152_159del

p.G51fs
p.G51fs

-

-

Ruzzo2019 G

ZFYVE19

mAGRE4831

chr15:
41106010-41106010

G

A

splicing

Paternal

splicing

12.23

Cirnigliaro2023 G

ZFYVE19

mAGRE4830

chr15:
41106010-41106010

G

A

splicing

Paternal

splicing

12.23

Cirnigliaro2023 G

ZFYVE19

mAGRE5344

chr15:
41102144-41102144

C

T

exonic

Paternal

stopgain

NM_001077268
NM_001258420
NM_001258421
NM_032850

c.C547T
c.C547T
c.C22T
c.C517T

p.R183X
p.R183X
p.R8X
p.R173X

37.0

Cirnigliaro2023 G

ZFYVE19

mAGRE5343

chr15:
41102144-41102144

C

T

exonic

Paternal

stopgain

NM_001077268
NM_001258420
NM_001258421
NM_032850

c.C547T
c.C547T
c.C22T
c.C517T

p.R183X
p.R183X
p.R8X
p.R173X

37.0

Cirnigliaro2023 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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