Variant Results

or

Results for "GALNT17"

Variant Events: 39

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

GALNT17

AU3729303

chr7:
71038307-71038309

ATT

AT

intronic

De novo

-

Yuen2017 G

GALNT17

2-1313-003

chr7:
71200682-71200687

TAAATA

T

intergenic

De novo

-

Yuen2016 G

GALNT17

AU036203

chr7:
70629593-70629593

A

G

intronic

De novo

-

Yuen2017 G

GALNT17

A9

chr7:
71064664-71064664

G

A

intronic

De novo

-

Wu2018 G

GALNT17

12859.p1

chr7:
71130451-71130451

T

C

exonic

De novo

nonsynonymous SNV

NM_022479

c.T1136C

p.I379T

26.9

1.648E-5

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

GALNT17

AU3727303

chr7:
71074401-71074401

T

C

intronic

De novo

-

Yuen2017 G

GALNT17

A16

chr7:
70886222-70886222

G

A

intronic

De novo

-

Wu2018 G

GALNT17

AU065807

chr7:
70962442-70962442

C

G

intronic

De novo

-

Yuen2017 G

GALNT17

7-0254-004

chr7:
70736040-70736040

C

T

intronic

De novo

-

Yuen2017 G

GALNT17

AU062204

chr7:
70784086-70784086

T

A

intronic

De novo

-

Yuen2017 G

GALNT17

2-1086-003

chr7:
71242745-71242745

G

A

intergenic

De novo

-

Yuen2017 G

GALNT17

AU1795303

chr7:
70860768-70860768

T

C

intronic

De novo

-

Yuen2017 G

GALNT17

5-0054-003

chr7:
70847687-70847687

G

A

intronic

De novo

-

Yuen2017 G

GALNT17

5-0099-003

chr7:
70693277-70693277

T

C

intronic

De novo

-

Yuen2017 G

GALNT17

AU3907302

chr7:
70638254-70638254

C

A

intronic

De novo

-

Yuen2017 G

GALNT17

SSC06092

chr7:
71130451-71130451

T

C

exonic

De novo

nonsynonymous SNV

NM_022479

c.T1136C

p.I379T

26.9

1.648E-5

Fu2022 E
Lim2017 E

GALNT17

2-1173-003

chr7:
71017670-71017670

G

A

intronic

De novo

-

Yuen2017 G

GALNT17

AU024004

chr7:
70835695-70835695

C

A

intronic

De novo

-

Yuen2017 G

GALNT17

AU4072303

chr7:
70680280-70680291

CTTGTTGTTGTT

CTTGTTGTT

intronic

De novo

-

Yuen2017 G

GALNT17

1-0559-005

chr7:
70817394-70817395

TG

T

intronic

De novo

-

Yuen2017 G

GALNT17

2-1117-003

chr7:
71120447-71120447

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GALNT17

2-1709-003

chr7:
70741997-70741997

T

G

intronic

De novo

-

Yuen2017 G

GALNT17

5-0030-003

chr7:
70604935-70604935

G

A

intronic

De novo

-

Yuen2017 G

GALNT17

1-0495-003

chr7:
70995318-70995345

AACACACACACACACGCACACACACACA

AACACACACACACGCACACACACACA

intronic

De novo

-

Yuen2017 G

GALNT17

AU3913302

chr7:
70740369-70740369

T

C

intronic

De novo

-

Yuen2017 G

GALNT17

AU4310301

chr7:
70938263-70938263

T

A

intronic

De novo

-

Yuen2017 G

GALNT17

12547.p1

chr7:
71130393-71130393

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

GALNT17

14501.p1

chr7:
71130575-71130575

G

A

exonic

De novo

synonymous SNV

NM_022479

c.G1260A

p.P420P

-

6.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

GALNT17

SSC06040

chr7:
71130393-71130393

T

C

intronic

De novo

-

Fu2022 E

GALNT17

1-0024-003

chr7:
71159225-71159225

C

T

intronic

De novo

-

Yuen2017 G

GALNT17

SSC08711

chr7:
70597988-70597988

T

C

exonic

De novo

nonsynonymous SNV

NM_022479

c.T200C

p.L67P

27.1

-

Fu2022 E

GALNT17

1-0051-004

chr7:
71010311-71010311

G

A

intronic

De novo

-

Yuen2017 G

GALNT17

1-0568-003

chr7:
71098054-71098054

A

ACT

intronic

De novo

-

Yuen2017 G

GALNT17

1-0671-003

chr7:
71243046-71243046

C

T

intergenic

De novo

-

Yuen2017 G

GALNT17

2-1325-003

chr7:
70897738-70897738

A

C

intronic

De novo

-

Yuen2017 G

GALNT17

AU1635302

chr7:
71126165-71126165

G

T

intronic

De novo

-

Yuen2017 G

GALNT17

AU3605304

chr7:
71206098-71206098

A

G

intergenic

De novo

-

Yuen2017 G

GALNT17

2-1291-003

chr7:
70973708-70973708

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GALNT17

2-1341-004

chr7:
71148947-71148947

C

T

intronic

De novo

-

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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