Variant Results

or

or

Results for "PANK4"

Variant Events: 25

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

PANK4

PN400283

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400209

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

CC1388_201

chr1:
2453162-2453162

C

T

exonic

De novo

nonsynonymous SNV

NM_018216

c.G226A

p.G76R

18.6

Fu2022 E

PANK4

PN400111

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400125

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

SP0026495

chr1:
2446954-2446954

C

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

PANK4

SP0055021

chr1:
2447071-2447071

G

A

exonic

De novo

nonsynonymous SNV

NM_018216

c.C1328T

p.T443M

18.51

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PANK4

SP0087853

chr1:
2447186-2447186

C

T

intronic

De novo

-

Fu2022 E

PANK4

PN400171

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400394

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400347

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400407

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

7-0397-003

chr1:
2446784-2446784

C

T

intronic

De novo

-

-

Trost2022 G

PANK4

PN400515

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400391

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400457

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400493

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

AU0636303

chr1:
2454215-2454215

G

A

intronic

De novo

-

-

Trost2022 G

PANK4

3-0183-000

chr1:
2454215-2454215

G

A

intronic

De novo

-

-

Trost2022 G

PANK4

MT_186.4

chr1:
2456021-2456021

G

T

intronic

De novo

-

-

Trost2022 G

PANK4

1-1063-004

chr1:
2454281-2454281

G

A

intronic

De novo

-

-

Trost2022 G

PANK4

PN400170

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400514

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400434

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 E

PANK4

PN400579

chr1:
2453133-2453134

CG

C

intronic

Unknown

-

-

Leblond2019 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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