Variant Results

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Results for "ITIH2"

Variant Events: 17

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

ITIH2

iHART2186

chr10:
7780709-7780711

CAT

C

exonic

Paternal

frameshift deletion

NM_002216

c.2084_2085del

p.H695fs

-

Ruzzo2019 G

ITIH2

mAGRE2186

chr10:
7780709-7780711

CAT

C

exonic

Paternal

frameshift deletion

NM_002216

c.2084_2085del

p.H695fs

-

Cirnigliaro2023 G

ITIH2

iHART2188

chr10:
7780709-7780711

CAT

C

exonic

Paternal

frameshift deletion

NM_002216

c.2084_2085del

p.H695fs

-

Ruzzo2019 G

ITIH2

mAGRE5567

chr10:
7765412-7765412

A

T

splicing

Maternal

splicing

13.12

-

Cirnigliaro2023 G

ITIH2

Al-Mubarak2017:ASD-69

chr10:
7776959-7776959

T

TTATT

exonic

Unknown

frameshift insertion

NM_002216

c.1862_1863insTATT

p.I621fs

-

-

Al-Mubarak2017 E

ITIH2

mAGRE4452

chr10:
7762921-7762921

C

T

exonic

Maternal

stopgain

NM_002216

c.C733T

p.Q245X

22.5

-

Cirnigliaro2023 G

ITIH2

mAGRE4451

chr10:
7762921-7762921

C

T

exonic

Maternal

stopgain

NM_002216

c.C733T

p.Q245X

22.5

-

Cirnigliaro2023 G

ITIH2

mAGRE1470

chr10:
7751155-7751155

G

C

splicing

Paternal

splicing

25.6

Cirnigliaro2023 G

ITIH2

iHART1470

chr10:
7751155-7751155

G

C

splicing

Paternal

splicing

25.6

Ruzzo2019 G

ITIH2

11910.p1

chr10:
7748800-7748800

G

A

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

ITIH2

4-0090-003

chr10:
7753849-7753849

C

A

intronic

De novo

-

-

Trost2022 G

ITIH2

2-1357-004

chr10:
7789344-7789344

C

CATTGTATGTTATGTTA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ITIH2

mAGRE2188

chr10:
7780709-7780711

CAT

C

exonic

Paternal

frameshift deletion

NM_002216

c.2084_2085del

p.H695fs

-

Cirnigliaro2023 G

ITIH2

1-0441-003

chr10:
7764216-7764216

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ITIH2

2-1355-004

chr10:
7788934-7788934

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ITIH2

2-1198-003

chr10:
7775301-7775301

C

T

intronic

De novo

-

-

Trost2022 G

ITIH2

Costa2023:P3-1

chr10:
7763722-7763722

G

T

exonic

De novo

nonsynonymous SNV

NM_002216

c.G849T

p.E283D

7.425

-

Costa2023 E

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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