Variant Results

or

Results for "TBC1D31"

Variant Events: 18

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

TBC1D31

AU050910

chr8:
124128760-124128760

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D31

2-0320-003

chr8:
124187440-124187440

G

A

intergenic

De novo

-

Yuen2017 G

TBC1D31

13975.p1

chr8:
124140567-124140567

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001145088
NM_145647

c.G1931C
c.G1931C

p.R644T
p.R644T

11.91

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TBC1D31

13581.p1

chr8:
124113166-124113166

T

A

exonic

De novo

nonsynonymous SNV

NM_001145088
NM_145647

c.T951A
c.T951A

p.H317Q
p.H317Q

14.69

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TBC1D31

5-5185-003

chr8:
124096505-124096505

A

T

exonic

De novo

synonymous SNV

NM_001145088
NM_145647

c.A444T
c.A444T

p.T148T
p.T148T

-

Trost2022 G
Zhou2022 GE

TBC1D31

12153.p1

chr8:
124142531-124142531

G

A

exonic

Mosaic

synonymous SNV

NM_001145088
NM_145647

c.G2364A
c.G2364A

p.Q788Q
p.Q788Q

-

Dou2017 E
Krupp2017 E

TBC1D31

3-0322-000

chr8:
124090462-124090462

C

T

intronic

De novo

-

Trost2022 G

TBC1D31

AU055603

chr8:
124152655-124152655

T

G

intronic

De novo

-

Trost2022 G

TBC1D31

SSC08167

chr8:
124113166-124113166

T

A

exonic

De novo

nonsynonymous SNV

NM_001145088
NM_145647

c.T951A
c.T951A

p.H317Q
p.H317Q

14.69

-

Fu2022 E
Lim2017 E
Trost2022 G

TBC1D31

mAGRE2831

chr8:
124153087-124153089

CAT

C

exonic

Maternal

frameshift deletion

NM_001145088
NM_145647

c.2494_2495del
c.2587_2588del

p.M832fs
p.M863fs

-

2.472E-5

Cirnigliaro2023 G

TBC1D31

mAGRE5443

chr8:
124141370-124141371

CA

C

exonic

Paternal

frameshift deletion

NM_001145088
NM_145647

c.2183delA
c.2183delA

p.Q728fs
p.Q728fs

-

Cirnigliaro2023 G

TBC1D31

AU2458303

chr8:
124186936-124186936

C

T

intergenic

De novo

-

Yuen2017 G

TBC1D31

mAGRE5442

chr8:
124141370-124141371

CA

C

exonic

Paternal

frameshift deletion

NM_001145088
NM_145647

c.2183delA
c.2183delA

p.Q728fs
p.Q728fs

-

Cirnigliaro2023 G

TBC1D31

iHART2831

chr8:
124153087-124153089

CAT

C

exonic

Maternal

frameshift deletion

NM_001145088
NM_145647

c.2494_2495del
c.2587_2588del

p.M832fs
p.M863fs

-

2.472E-5

Ruzzo2019 G

TBC1D31

2-0149-004

chr8:
124154917-124154918

GC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D31

AU1988302

chr8:
124164859-124164859

C

T

downstream

De novo

-

Trost2022 G
Yuen2017 G

TBC1D31

3-0018-000

chr8:
124181900-124181900

C

A

intergenic

De novo

-

Yuen2017 G

TBC1D31

2-1352-003

chr8:
124125171-124125171

G

A

intronic

De novo

-

Yuen2016 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
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