Variant Results

or

Results for "IMPG1"

Variant Events: 98

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

IMPG1

AU031403

chr6:
77111539-77111539

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

iHART1264

chr6:
76660308-76660308

G

A

exonic

Maternal

stopgain

NM_001282368
NM_001563

c.C1561T
c.C1795T

p.R521X
p.R599X

40.0

-

Ruzzo2019 G

IMPG1

1-0175-003

chr6:
77062779-77062779

T

A

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1521-003

chr6:
77468045-77468045

A

C

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0183-003

chr6:
77853625-77853625

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0033-003

chr6:
77559999-77559999

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

1-0465-003a

chr6:
77652948-77652948

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0095-004

chr6:
76893991-76893998

AGTATCTG

A

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0095-004

chr6:
77872289-77872289

A

AATTTGTATC

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0218-003

chr6:
77922453-77922462

ATTTCCTTCG

A

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1729-003

chr6:
77606426-77606426

C

G

intergenic

De novo

-

Yuen2017 G

IMPG1

AU056005

chr6:
78083891-78083891

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1366-004

chr6:
77211369-77211369

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0208-003

chr6:
76825103-76825103

G

C

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1366-004

chr6:
76866594-76866594

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0045-003

chr6:
77715737-77715738

TG

T

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1645-003

chr6:
76969206-76969206

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

5-0064-003

chr6:
77195195-77195195

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0003-004

chr6:
77751040-77751040

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

AU4173301

chr6:
77075503-77075503

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

AU051503

chr6:
77123096-77123096

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

AU1988301

chr6:
77818678-77818678

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0345-004

chr6:
78166069-78166069

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1299-003

chr6:
77142666-77142666

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0299-004

chr6:
77678560-77678560

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0763-003

chr6:
77383544-77383544

G

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0763-003

chr6:
77188366-77188366

G

T

intergenic

De novo

-

Yuen2017 G

IMPG1

AU038204

chr6:
77028863-77028867

CAAAA

CAAA

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0460-003

chr6:
77000189-77000189

C

A

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0683-003

chr6:
77746265-77746265

G

T

intergenic

De novo

-

Yuen2017 G

IMPG1

AU024608

chr6:
77778751-77778751

C

A

intergenic

De novo

-

Yuen2017 G

IMPG1

5-0116-003

chr6:
77015500-77015505

ATCTCT

ATCT

intergenic

De novo

-

Yuen2017 G

IMPG1

AU4060306

chr6:
77422508-77422508

G

C

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0175-004

chr6:
77062779-77062779

T

A

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0715-003

chr6:
77804457-77804457

C

A

intergenic

De novo

-

Yuen2017 G

IMPG1

AU030804

chr6:
77004823-77004823

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0214-003

chr6:
76795045-76795045

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

AU4223302

chr6:
78131554-78131554

C

G

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0344-003

chr6:
77347186-77347186

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1241-003

chr6:
77293180-77293184

TTTTG

T

intergenic

De novo

-

Yuen2016 G

IMPG1

1-0269-003

chr6:
77925772-77925772

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0028-003

chr6:
77243827-77243827

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0218-004

chr6:
76979096-76979096

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0028-003

chr6:
77244843-77244843

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

5-0033-004

chr6:
77888239-77888239

T

A

intergenic

De novo

-

Yuen2017 G

IMPG1

5-0033-004

chr6:
77889684-77889684

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1577-003

chr6:
78078706-78078706

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0513-003

chr6:
76652614-76652614

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

2-0028-003

chr6:
77921901-77921901

C

G

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1329-003

chr6:
77715810-77715810

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

AU3997301

chr6:
78147140-78147140

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

AU2525302

chr6:
77868085-77868085

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

AU071804

chr6:
77063843-77063870

AACACACACACACACATACACACACACA

AACACACACACACATACACACACACA

intergenic

De novo

-

Yuen2017 G

IMPG1

AU4239301

chr6:
77469806-77469806

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0323-004

chr6:
77861672-77861672

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1429-004

chr6:
77478798-77478798

C

A

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0078-003

chr6:
77601433-77601433

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0058-003

chr6:
77185680-77185681

AG

A

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0144-003

chr6:
77106813-77106813

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0745-003

chr6:
77230467-77230467

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

AU3964302

chr6:
76645635-76645635

C

A

intronic

De novo

-

Yuen2017 G

IMPG1

AU3964302

chr6:
77208816-77208816

A

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0465-003

chr6:
77652948-77652948

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0197-003

chr6:
77200675-77200675

C

A

intergenic

De novo

-

Yuen2017 G

IMPG1

13701.p1

chr6:
76660802-76660802

C

T

exonic

Mosaic

stopgain

NM_001282368
NM_001563

c.G1067A
c.G1301A

p.W356X
p.W434X

25.0

-

Dou2017 E
Krupp2017 E

IMPG1

AU073005

chr6:
76905073-76905079

ATTTTTT

ATTTTT

intergenic

De novo

-

Yuen2017 G

IMPG1

AU1668302

chr6:
77341105-77341105

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

AU031003

chr6:
77737592-77737592

G

C

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1315-003

chr6:
76658727-76658727

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

2-1315-003

chr6:
76658758-76658758

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

AU047703

chr6:
76654405-76654405

A

G

intronic

De novo

-

Yuen2017 G

IMPG1

A32

chr6:
77265003-77265003

T

C

intergenic

De novo

-

Wu2018 G

IMPG1

AU3712301

chr6:
77574824-77574838

CTTTTATTTTATTTT

CTTTTATTTT

intergenic

De novo

-

Yuen2017 G

IMPG1

11089.p1

chr6:
77136387-77136387

G

A

intergenic

De novo

-

Turner2016 G

IMPG1

12498.p1

chr6:
77408489-77408489

A

G

intergenic

De novo

-

Turner2016 G

IMPG1

13874.p1

chr6:
76677638-76677638

C

A

intronic

De novo

-

Turner2016 G

IMPG1

2-0270-003

chr6:
77968632-77968632

T

TCTTTCTTTCTCTCTCTCTCTTTC

intergenic

De novo

-

Yuen2017 G

IMPG1

11572.p1

chr6:
77549678-77549678

T

C

intergenic

De novo

-

Turner2016 G

IMPG1

12493.p1

chr6:
77725668-77725668

G

C

intergenic

De novo

-

Turner2016 G

IMPG1

1-0756-003

chr6:
77535615-77535615

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

A29

chr6:
77836103-77836103

G

A

intergenic

De novo

-

Wu2018 G

IMPG1

2-1254-003

chr6:
77504789-77504789

T

C

intergenic

De novo

-

Yuen2016 G

IMPG1

AU4067301

chr6:
78059241-78059241

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0012-003

chr6:
76888313-76888313

T

C

intergenic

De novo

-

Yuen2017 G

IMPG1

AU3911302

chr6:
76916854-76916854

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0303-004

chr6:
77826806-77826806

C

T

intergenic

De novo

-

Yuen2017 G

IMPG1

AU050603

chr6:
76909083-76909083

G

A

intergenic

De novo

-

Yuen2017 G

IMPG1

2-0028-003

chr6:
76741130-76741130

T

A

intronic

De novo

-

Yuen2016 G

IMPG1

1-0699-003

chr6:
77761872-77761872

G

T

intergenic

De novo

-

Yuen2017 G

IMPG1

3-0134-000

chr6:
77316994-77316994

A

T

intergenic

De novo

-

Yuen2017 G

IMPG1

1-0025-004

chr6:
78017248-78017248

T

G

intergenic

De novo

-

Yuen2017 G

IMPG1

2-1295-003

chr6:
78109716-78109716

G

T

intergenic

De novo

-

Yuen2017 G

IMPG1

A32

chr6:
76773506-76773506

T

G

intronic

De novo

-

Wu2018 G

IMPG1

1-0520-003

chr6:
77741620-77741620

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IMPG1

2-1379-003

chr6:
76826836-76826836

A

G

intergenic

De novo

-

Yuen2017 G

IMPG1

7-0249-004

chr6:
76682793-76682793

C

T

intronic

De novo

-

Yuen2017 G

IMPG1

5-0040-003

chr6:
76776931-76776931

T

TAA

intronic

De novo

-

Yuen2017 G

IMPG1

2-1194-003

chr6:
77615527-77615527

G

A

intergenic

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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