Variant Results

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Results for "ITGA10"

Variant Events: 12

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

ITGA10

10C110016

chr1:
145533984-145533984

G

C

intronic

De novo

-

-

Trost2022 G

ITGA10

SSC07698

chr1:
145532080-145532080

A

G

intronic

De novo

-

-

Trost2022 G

ITGA10

iHART2259

chr1:
145532475-145532476

CG

C

exonic

Paternal

frameshift deletion

NM_001303041
NM_001303040
NM_003637

c.500delG
c.536delG
c.929delG

p.R167fs
p.R179fs
p.R310fs

-

-

Ruzzo2019 G

ITGA10

mAGRE5763

chr1:
145534276-145534277

AT

A

exonic

Paternal

frameshift deletion

NM_001303041
NM_001303040
NM_003637

c.1353delT
c.1389delT
c.1782delT

p.H451fs
p.H463fs
p.H594fs

-

-

Cirnigliaro2023 G

ITGA10

mAGRE5762

chr1:
145534276-145534277

AT

A

exonic

Paternal

frameshift deletion

NM_001303041
NM_001303040
NM_003637

c.1353delT
c.1389delT
c.1782delT

p.H451fs
p.H463fs
p.H594fs

-

-

Cirnigliaro2023 G

ITGA10

mAGRE2259

chr1:
145532475-145532476

CG

C

exonic

Paternal

frameshift deletion

NM_001303041
NM_001303040
NM_003637

c.500delG
c.536delG
c.929delG

p.R167fs
p.R179fs
p.R310fs

-

-

Cirnigliaro2023 G

ITGA10

P1229

chr1:
145536118-145536118

A

G

exonic

De novo

nonsynonymous SNV

NM_001303041
NM_001303040
NM_003637

c.A1781G
c.A1817G
c.A2210G

p.E594G
p.E606G
p.E737G

13.51

-

Hashimoto2016 E

ITGA10

Chen2017:127

chr1:
145534964-145534964

G

A

exonic

De novo

nonsynonymous SNV

NM_001303041
NM_001303040
NM_003637

c.G1438A
c.G1474A
c.G1867A

p.G480R
p.G492R
p.G623R

27.5

-

Chen2017 E

ITGA10

200675765@1082034184

chr1:
145534964-145534964

G

A

exonic

De novo

nonsynonymous SNV

NM_001303041
NM_001303040
NM_003637

c.G1438A
c.G1474A
c.G1867A

p.G480R
p.G492R
p.G623R

27.5

-

Satterstrom2020 E
Zhou2022 GE

ITGA10

13454.p1

chr1:
145532078-145532078

A

G

intronic

De novo

-

Satterstrom2020 E

ITGA10

10C110016

chr1:
145533982-145533982

G

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

ITGA10

Wang2023:9

chr1:
145539092-145539092

A

C

exonic

De novo

nonsynonymous SNV

NM_001303041
NM_001303040
NM_003637

c.A2603C
c.A2639C
c.A3032C

p.N868T
p.N880T
p.N1011T

20.8

-

Wang2023 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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