Variant Results

or

or

Results for "SERPINA12"

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

SERPINA12

14496.p1

chr14:
94968029-94968029

A

C

intronic

De novo

-

-

Turner2016 G

SERPINA12

5-5025-003

chr14:
94961685-94961685

G

A

intronic

De novo

-

-

Trost2022 G

SERPINA12

14370.p1

chr14:
95022656-95022656

C

T

intergenic

De novo

-

-

Turner2016 G

SERPINA12

1-0158-012

chr14:
95016715-95016715

G

T

intergenic

De novo

-

-

Yuen2017 G

SERPINA12

7-0235-003

chr14:
94977836-94977836

C

T

intronic

De novo

-

-

Trost2022 G

SERPINA12

AU2463301

chr14:
94955085-94955085

C

T

intronic

De novo

-

-

Trost2022 G

SERPINA12

iHART1424

chr14:
94953688-94953689

TA

T

exonic

Maternal

frameshift deletion

NM_001304461
NM_173850

c.1196delT
c.1196delT

p.I399fs
p.I399fs

-

Ruzzo2019 G

SERPINA12

iHART2211

chr14:
94962709-94962709

C

A

splicing

Paternal

splicing

10.91

Ruzzo2019 G

SERPINA12

1-0965-003

chr14:
95012166-95012166

T

C

intergenic

De novo

-

-

Yuen2017 G

SERPINA12

SP0032141

chr14:
94955901-94955901

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SERPINA12

mAGRE1424

chr14:
94953688-94953689

TA

T

exonic

Maternal

frameshift deletion

NM_001304461
NM_173850

c.1196delT
c.1196delT

p.I399fs
p.I399fs

-

Cirnigliaro2023 G

SERPINA12

1-0526-003

chr14:
95021324-95021324

G

A

intergenic

De novo

-

-

Yuen2017 G

SERPINA12

mAGRE2211

chr14:
94962709-94962709

C

A

splicing

Paternal

splicing

10.91

Cirnigliaro2023 G

SERPINA12

mAGRE4074

chr14:
94953832-94953832

C

A

splicing

Maternal

splicing

14.65

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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