Variant Results

or

Results for "RABGGTA"

Variant Events: 12

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

RABGGTA

SP0031421

chr14:
24737095-24737095

T

C

exonic

De novo

nonsynonymous SNV

NM_004581
NM_182836

c.A1217G
c.A1217G

p.Q406R
p.Q406R

9.887

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RABGGTA

12669.p1

chr14:
24737571-24737571

C

T

intronic

De novo

11.17

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RABGGTA

PN400115

chr14:
24737126-24737126

C

G

exonic

Unknown

nonsynonymous SNV

NM_004581
NM_182836

c.G1186C
c.G1186C

p.D396H
p.D396H

29.5

8.319E-6

Leblond2019 E

RABGGTA

SP0105071

chr14:
24738102-24738102

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

RABGGTA

1-0303-004

chr14:
24742643-24742643

C

T

intergenic

De novo

-

Yuen2017 G

RABGGTA

PN400231

chr14:
24736942-24736942

C

T

exonic

Unknown

nonsynonymous SNV

NM_004581
NM_182836

c.G1277A
c.G1277A

p.R426H
p.R426H

32.0

7.525E-5

Leblond2019 E

RABGGTA

PN400215

chr14:
24737126-24737126

C

G

exonic

Unknown

nonsynonymous SNV

NM_004581
NM_182836

c.G1186C
c.G1186C

p.D396H
p.D396H

29.5

8.319E-6

Leblond2019 E

RABGGTA

PN400219

chr14:
24737126-24737126

C

G

exonic

Unknown

nonsynonymous SNV

NM_004581
NM_182836

c.G1186C
c.G1186C

p.D396H
p.D396H

29.5

8.319E-6

Leblond2019 E

RABGGTA

AU3727302

chr14:
24737871-24737871

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RABGGTA

AU3913303

chr14:
24743391-24743391

C

T

intergenic

De novo

-

Yuen2017 G

RABGGTA

11716.p1

chr14:
24738874-24738874

C

A

exonic

De novo

nonsynonymous SNV

NM_004581
NM_182836

c.G454T
c.G454T

p.V152L
p.V152L

27.8

3.0E-4

Ji2016 E
Krumm2015 E

RABGGTA

SSC05895

chr14:
24737571-24737571

C

T

intronic

De novo

11.17

-

Fu2022 E
Trost2022 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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