Variant Results

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Results for "FRMPD4"

Variant Events: 20

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

FRMPD4

14058.p1

chrX:
12481792-12481792

A

ATG

intronic

Maternal

-

-

Wilfert2021 G

FRMPD4

13150.p1

chrX:
12481792-12481792

A

ATG

intronic

Inherited

-

-

Wilfert2021 G

FRMPD4

1-0139-003

chrX:
12245853-12245853

G

A

intronic

De novo

-

-

Yuen2017 G

FRMPD4

AU0786305

chrX:
12664767-12664767

A

G

intronic

De novo

-

-

Yuen2017 G

FRMPD4

1-0009-004

chrX:
12709963-12709963

C

T

intronic

De novo

-

-

Yuen2017 G

FRMPD4

AU1848302

chrX:
12272012-12272012

T

A

intronic

De novo

-

-

Yuen2017 G

FRMPD4

7-0219-003

chrX:
12704250-12704250

C

T

exonic

De novo

nonsynonymous SNV

NM_014728

c.C608T

p.P203L

29.4

-

Yuen2017 G
Zhou2022 GE

FRMPD4

AU3891302

chrX:
12336056-12336056

A

G

intronic

De novo

-

-

Yuen2017 G

FRMPD4

13890.p1

chrX:
12587847-12587847

T

C

intronic

De novo

-

-

Wilfert2021 G

FRMPD4

AU3903302

chrX:
12718937-12718937

A

G

intronic

De novo

-

-

Yuen2017 G

FRMPD4

1-0305-004

chrX:
12754127-12754127

C

G

intergenic

De novo

-

-

Yuen2017 G

FRMPD4

AU047704

chrX:
12727485-12727485

C

T

intronic

De novo

-

-

Yuen2017 G

FRMPD4

12296.p1

chrX:
12627964-12627964

A

G

exonic

De novo

nonsynonymous SNV

NM_014728

c.A283G

p.S95G

18.84

-

Ji2016 E
Krumm2015 E

FRMPD4

2-1169-003

chrX:
12542694-12542694

C

T

intronic

De novo

-

-

Yuen2017 G

FRMPD4

AU4006302

chrX:
12434223-12434223

T

C

intronic

De novo

-

-

Yuen2017 G

FRMPD4

Codina-Sola2015:ASD_16

chrX:
12632966-12632966

G

A

exonic

Maternal

nonsynonymous SNV

NM_014728

c.G388A

p.A130T

9.644

Codina-Sola2015 E

FRMPD4

12493.p1

chrX:
12535571-12535571

C

T

intronic

De novo

-

-

Turner2016 G

FRMPD4

B0435

chrX:
12736216-12736216

C

G

exonic

Maternal

nonsynonymous SNV

NM_014728

c.C3271G

p.Q1091E

18.94

Xiong2019 ET

FRMPD4

2-0007-004

chrX:
12630930-12630930

T

C

intronic

De novo

-

-

Yuen2017 G

FRMPD4

2-1518-003

chrX:
12697046-12697046

A

G

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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