Variant Results

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Results for "HHIPL1"

Variant Events: 16

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

HHIPL1

1-0354-003

chr14:
100123125-100123125

A

AAG

intronic

De novo

-

-

Yuen2017 G

HHIPL1

SP0000573

chr14:
100125707-100125707

C

A

intronic

De novo

-

-

Fu2022 E

HHIPL1

13143.p1

chr14:
100137354-100137354

C

T

intronic

De novo

-

-

Wilfert2021 G

HHIPL1

AU056604

chr14:
100120121-100120121

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HHIPL1

AU2293301

chr14:
100111546-100111546

T

TGGCCC

exonic

Maternal

frameshift insertion

NM_001127258
NM_032425

c.2_3insGGCCC
c.2_3insGGCCC

p.M1fs
p.M1fs

-

-

Cirnigliaro2023 G

HHIPL1

142090

chr14:
100111631-100111631

C

A

exonic

De novo

synonymous SNV

NM_001127258
NM_032425

c.C87A
c.C87A

p.P29P
p.P29P

-

-

Fu2022 E

HHIPL1

1-0180-004

chr14:
100123125-100123125

A

AAG

intronic

De novo

-

-

Yuen2017 G

HHIPL1

2-0149-004

chr14:
100123125-100123125

A

AAG

intronic

De novo

-

-

Yuen2017 G

HHIPL1

7-0017-003A

chr14:
100125231-100125231

C

T

intronic

De novo

-

-

Trost2022 G

HHIPL1

3-0146-000

chr14:
100137137-100137138

TG

CT

intronic

De novo

-

-

Trost2022 G

HHIPL1

1-0150-003

chr14:
100123125-100123125

A

AAG

intronic

De novo

-

-

Yuen2017 G

HHIPL1

iHART2855

chr14:
100111546-100111546

T

TGGCCC

exonic

Maternal

frameshift insertion

NM_001127258
NM_032425

c.2_3insGGCCC
c.2_3insGGCCC

p.M1fs
p.M1fs

-

-

Ruzzo2019 G

HHIPL1

1-0018-003

chr14:
100114087-100114123

GTGGAGGTGCCTTATTCATAGGTCTCTGTCAGTGTGG

A

intronic

De novo

-

-

Trost2022 G

HHIPL1

SP0137633

chr14:
100119030-100119030

C

T

exonic

De novo

nonsynonymous SNV

NM_001127258
NM_032425

c.C725T
c.C725T

p.S242L
p.S242L

17.65

Fu2022 E
Trost2022 G
Zhou2022 GE

HHIPL1

AC02-1197-01

chr14:
100134687-100134687

C

A

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

HHIPL1

2-0278-003

chr14:
100143661-100143661

G

A

downstream

De novo

-

-

Trost2022 G
Yuen2017 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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