Variant Results

or

or

Results for "SHF"

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

SHF

12123.p1

chr15:
45465888-45465888

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_138356

c.C679T

p.P227S

27.9

-

Dou2017 E
Ji2016 E
Krumm2015 E
Zhou2022 GE

SHF

7-0012-003

chr15:
45529597-45529597

G

T

intergenic

De novo

-

-

Yuen2017 G

SHF

1-0346-004

chr15:
45520540-45520540

T

TTTTGTTTTG

intergenic

De novo

-

-

Yuen2017 G

SHF

REACH000747

chr15:
45469108-45469108

C

T

intronic

De novo

-

-

Trost2022 G

SHF

3-0878-000

chr15:
45484658-45484658

C

T

intronic

De novo

-

-

Trost2022 G

SHF

A31

chr15:
45531620-45531620

G

A

intergenic

De novo

-

-

Wu2018 G

SHF

12123_p1

chr15:
45465888-45465888

G

A

exonic

De novo

nonsynonymous SNV

NM_138356

c.C679T

p.P227S

27.9

-

Fu2022 E

SHF

SP0026774

chr15:
45479864-45479864

C

A

exonic

nonsynonymous SNV

NM_001301168
NM_001301169
NM_001301170

c.G286T
c.G286T
c.G286T

p.A96S
p.A96S
p.A96S

21.9

-

Zhou2022 GE

SHF

mAGRE2029

chr15:
45491191-45491192

GC

G

exonic

Paternal

frameshift deletion

NM_138356

c.81delG

p.G27fs

-

Cirnigliaro2023 G

SHF

iHART2029

chr15:
45491191-45491192

GC

G

exonic

Paternal

frameshift deletion

NM_138356

c.81delG

p.G27fs

-

Ruzzo2019 G

SHF

5-0041-003

Complex Event; expand row to view variants

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
	More