Variant Results

or

Results for "TTLL5"

Variant Events: 38

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

TTLL5

1-1238-003

chr14:
76363735-76363738

CTTA

C

intronic

De novo

-

Trost2022 G

TTLL5

5-0054-003

chr14:
76391237-76391237

C

T

intronic

De novo

-

Trost2022 G

TTLL5

1-0354-003

chr14:
76395150-76395150

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

MT_160.4

chr14:
76312909-76312909

G

A

intronic

De novo

-

Trost2022 G

TTLL5

2-1546-003

chr14:
76361249-76361249

A

C

intronic

De novo

-

Trost2022 G

TTLL5

2-1740-003

chr14:
76265152-76265152

A

C

intronic

De novo

-

Trost2022 G

TTLL5

2-1594-003

chr14:
76294490-76294490

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

5-0020-003

chr14:
76286290-76286290

G

A

intronic

De novo

-

Trost2022 G

TTLL5

REACH000681

chr14:
76249965-76249965

A

G

intronic

De novo

-

Trost2022 G

TTLL5

MSSNG00019-004A

chr14:
76253113-76253113

A

G

intronic

De novo

-

Trost2022 G

TTLL5

1-0201-005

chr14:
76407870-76407871

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

7-0067-003

chr14:
76152681-76152681

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

REACH000092

chr14:
76399287-76399287

C

T

intronic

De novo

-

Trost2022 G

TTLL5

7-0427-003

chr14:
76415411-76415411

A

G

intronic

De novo

-

Trost2022 G

TTLL5

11693.p1

chr14:
76231014-76231014

A

G

exonic

De novo

nonsynonymous SNV

NM_015072

c.A1607G

p.K536R

14.28

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

TTLL5

11021.p1

chr14:
76231082-76231082

A

G

exonic

De novo

nonsynonymous SNV

NM_015072

c.A1675G

p.S559G

4.132

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

TTLL5

12793.p1

chr14:
76246068-76246069

GA

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G

TTLL5

2-1411-003

chr14:
76271786-76271786

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TTLL5

1-0138-003

chr14:
76166239-76166239

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

SP0031230

chr14:
76129512-76129512

G

A

exonic

De novo

nonsynonymous SNV

NM_015072

c.G20A

p.R7Q

20.6

1.83E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TTLL5

mAGRE6014

chr14:
76330021-76330023

CAG

C

exonic

Maternal

frameshift deletion

NM_015072

c.3339_3340del

p.T1113fs

-

Cirnigliaro2023 G

TTLL5

mAGRE2704

chr14:
76241851-76241851

C

T

exonic

Paternal

stopgain

NM_015072

c.C2161T

p.R721X

41.0

-

Cirnigliaro2023 G

TTLL5

5-0018-003

chr14:
76321490-76321490

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

2-1729-003

chr14:
76329601-76329601

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

AU1795301

chr14:
76266331-76266331

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

SSC00002

chr14:
76231082-76231082

A

G

exonic

De novo

nonsynonymous SNV

NM_015072

c.A1675G

p.S559G

4.132

-

Fu2022 E
Lim2017 E
Trost2022 G

TTLL5

SSC03418

chr14:
76231014-76231014

A

G

exonic

De novo

nonsynonymous SNV

NM_015072

c.A1607G

p.K536R

14.28

-

Fu2022 E
Lim2017 E
Trost2022 G

TTLL5

iHART2704

chr14:
76241851-76241851

C

T

exonic

Paternal

stopgain

NM_015072

c.C2161T

p.R721X

41.0

-

Ruzzo2019 G

TTLL5

7-0230-003

chr14:
76195794-76195797

GTTT

AAAAA

intronic

De novo

-

Trost2022 G

TTLL5

MSSNG00347-003

chr14:
76235873-76235873

A

G

intronic

De novo

-

Trost2022 G

TTLL5

AU2320301

chr14:
76189566-76189566

A

G

intronic

De novo

-

Trost2022 G

TTLL5

AU004403

chr14:
76194690-76194690

A

G

intronic

De novo

-

Trost2022 G

TTLL5

1-0455-003

chr14:
76376535-76376535

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

1-0560-003

chr14:
76195967-76195967

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

SP0066774

chr14:
76147938-76147938

C

T

exonic

De novo

nonsynonymous SNV

NM_015072

c.C232T

p.R78C

26.3

5.766E-5

Trost2022 G

TTLL5

MSSNG00033-004

chr14:
76150293-76150293

C

G

intronic

De novo

-

Trost2022 G

TTLL5

5-0033-004

chr14:
76290947-76290947

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TTLL5

MSSNG00360-004

chr14:
76136747-76136747

T

G

intronic

De novo

-

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
	More