Variant Results

or

Results for "CHL1"

Variant Events: 53

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

CHL1

REACH000202

chr3:
362098-362098

G

A

intronic

De novo

-

Trost2022 G

CHL1

1-1175-003

chr3:
364724-364724

C

G

intronic

De novo

-

Trost2022 G

CHL1

MT_107.3

chr3:
340937-340937

T

C

intronic

De novo

-

Trost2022 G

CHL1

5-5064-003

chr3:
350166-350166

T

G

intronic

De novo

-

Trost2022 G

CHL1

3-0409-000

chr3:
304294-304294

A

G

intronic

De novo

-

Trost2022 G

CHL1

AU3399303

chr3:
520605-520605

A

G

intergenic

De novo

-

Yuen2017 G

CHL1

REACH000233

chr3:
338727-338727

A

C

intronic

De novo

-

Trost2022 G

CHL1

3-0783-000

chr3:
266723-266723

C

T

intronic

De novo

-

Trost2022 G

CHL1

1-0300-003

chr3:
345255-345255

A

C

intronic

De novo

-

Yuen2017 G

CHL1

SJD_61.3

chr3:
284196-284196

T

G

intronic

De novo

-

Trost2022 G

CHL1

REACH000322

chr3:
404777-404777

C

T

intronic

De novo

-

Trost2022 G

CHL1

AU3918302

chr3:
330657-330657

G

A

intronic

De novo

-

Yuen2017 G

CHL1

7-0198-003

chr3:
403817-403817

T

C

intronic

De novo

-

Trost2022 G

CHL1

MSSNG00406-003

chr3:
403916-403916

T

C

intronic

De novo

-

Trost2022 G

CHL1

7-0397-003

chr3:
390452-390452

G

T

intronic

De novo

-

Trost2022 G

CHL1

3-0360-000

chr3:
398505-398505

A

C

intronic

De novo

-

Trost2022 G

CHL1

AU2817301

chr3:
380004-380005

GA

G

intronic

De novo

-

Trost2022 G

CHL1

3-0467-000

chr3:
382726-382726

A

G

intronic

De novo

-

Trost2022 G

CHL1

Li2017:19599

chr3:
440760-440760

C

T

exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C3155T
c.C3266T
c.C3314T

p.A1052V
p.A1089V
p.A1105V

35.0

1.0E-4

Li2017 T

CHL1

SP0111341

chr3:
391081-391081

C

G

exonic

De novo

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C888G
c.C840G
c.C888G

p.D296E
p.D280E
p.D296E

5.775

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CHL1

1-0155-003

chr3:
320096-320096

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

1-0144-004

chr3:
550731-550731

A

G

intergenic

De novo

-

Yuen2017 G

CHL1

2-1295-003

chr3:
562713-562713

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHL1

14496.p1

chr3:
553866-553866

A

G

intergenic

De novo

-

Turner2016 G

CHL1

2-1633-003

chr3:
334179-334179

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

AU039305

chr3:
573535-573535

C

T

intergenic

De novo

-

Yuen2017 G

CHL1

Li2017:19684

chr3:
403486-403486

G

A

exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.G1411A
c.G1363A
c.G1411A

p.V471M
p.V455M
p.V471M

16.39

3.299E-5

Li2017 T

CHL1

2-1066-003

chr3:
275219-275219

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

Li2017:23136

chr3:
424343-424343

C

T

exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C2165T
c.C2117T
c.C2165T

p.T722I
p.T706I
p.T722I

17.79

-

Li2017 T

CHL1

1-0121-003

chr3:
434049-434049

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

1-0994-003

chr3:
532645-532649

CTGTG

CTG

intergenic

De novo

-

Yuen2017 G

CHL1

SMHC01873s000

chr3:
433456-433456

G

T

exonic

De novo

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.G2890T
c.G2842T
c.G2890T

p.G964C
p.G948C
p.G964C

25.4

-

Yuan2023 E

CHL1

AU4093304

chr3:
429407-429407

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

Li2017:23258

chr3:
419514-419514

G

T

exonic

Unknown

stopgain

NM_001253388
NM_001253387
NM_006614

c.G1765T
c.G1717T
c.G1765T

p.G589X
p.G573X
p.G589X

44.0

-

Li2017 T

CHL1

Li2017:17629

chr3:
424249-424249

C

T

splicing;exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C2071T
c.C2023T
c.C2071T

p.P691S
p.P675S
p.P691S

6.443

-

Li2017 T

CHL1

7-0166-003

chr3:
432210-432210

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHL1

AU076705

chr3:
449022-449022

C

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

CHL1

111317

chr3:
386295-386295

C

T

exonic

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C751T
c.C703T
c.C751T

p.P251S
p.P235S
p.P251S

27.6

-

Woodbury-Smith2022 E

CHL1

2-1107-003

chr3:
298221-298221

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CHL1

2-1128-003

chr3:
628348-628348

A

G

intergenic

De novo

-

Yuen2017 G

CHL1

AU0039303

chr3:
630660-630660

A

G

intergenic

De novo

-

Yuen2017 G

CHL1

AU2333302

chr3:
595100-595100

G

C

intergenic

De novo

-

Yuen2017 G

CHL1

Li2017:23785

chr3:
382569-382569

C

T

exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.C478T
c.C478T
c.C478T

p.P160S
p.P160S
p.P160S

19.49

6.616E-5

Li2017 T

CHL1

1-0772-003

chr3:
514504-514505

TG

T

intergenic

De novo

-

Yuen2017 G

CHL1

Li2017:15036

chr3:
404971-404971

T

C

exonic

Unknown

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.T1490C
c.T1442C
c.T1490C

p.I497T
p.I481T
p.I497T

23.3

-

Li2017 T

CHL1

1-0925-003

chr3:
245228-245237

TGGATGGGAT

TGGAT

intronic

De novo

-

Yuen2017 G

CHL1

2-0219-004

chr3:
238520-238520

C

G

UTR5

De novo

-

Trost2022 G
Yuen2017 G

CHL1

4-0088-003

chr3:
260494-260494

T

C

intronic

De novo

-

Trost2022 G

CHL1

1-1055-003

chr3:
261484-261484

T

G

intronic

De novo

-

Trost2022 G

CHL1

AU4283301

chr3:
401984-401984

G

A

exonic

De novo

nonsynonymous SNV

NM_001253388
NM_001253387
NM_006614

c.G1183A
c.G1135A
c.G1183A

p.D395N
p.D379N
p.D395N

11.75

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CHL1

3-0102-000

chr3:
255765-255765

T

C

intronic

De novo

-

Trost2022 G

CHL1

10-0007-003

chr3:
258217-258217

A

G

intronic

De novo

-

Trost2022 G

CHL1

MT_166.3

chr3:
242634-242638

GTAGT

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