Variant Results

or

Results for "IL1RAPL1"

Variant Events: 47

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

IL1RAPL1

ASD-706

chrX:
29973335-29973335

C

T

exonic

De novo

stopgain

NM_014271

c.C1489T

p.R497X

41.0

-

Du2018 E

IL1RAPL1

AU3720302

chrX:
28810961-28810970

TATATATAAA

TA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1160-003

chrX:
29426834-29426834

C

T

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1368-003

chrX:
29535456-29535473

GTATATATATATATATAT

GTATATATATATATAT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3779301

chrX:
29820886-29820919

ATATATATATATATGTGTGTGTGTATATATATAT

ATGTATATATATAT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3779304

chrX:
29820886-29820919

ATATATATATATATGTGTGTGTGTATATATATAT

ATGTATATATATAT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4069301

chrX:
30155016-30155017

CT

C

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

AU4426303

chrX:
28833954-28833957

ATGT

ATGTTTGTGT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4032306

chrX:
29228991-29228991

A

G

intronic

De novo

-

Yuen2017 G

IL1RAPL1

1-0484-003

chrX:
29034025-29034025

C

CT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3997302

chrX:
29239729-29239744

CACACACATACACACA

CACACACA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

5-0117-003

chrX:
29547591-29547591

A

G

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3787303

chrX:
29350766-29350773

TTTTATTT

TTTT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4067301

chrX:
28990349-28990349

C

T

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU074403

chrX:
29494717-29494717

A

G

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3397302

chrX:
30106293-30106300

TTCTCTCT

TTCT

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

2-1510-003

chrX:
29935270-29935270

G

A

intronic

De novo

-

Yuen2017 G

IL1RAPL1

7-0168-003

chrX:
28988019-28988026

AACACACA

AACACA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

1-0253-005

chrX:
29977177-29977177

C

G

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

5-0033-004

chrX:
30140704-30140704

G

A

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

1-0559-005

chrX:
29432680-29432680

T

C

intronic

De novo

-

Yuen2017 G

IL1RAPL1

3-0185-000

chrX:
28958943-28958943

T

C

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU079605

chrX:
29892623-29892623

G

C

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1206-003

chrX:
29094895-29094898

ATCT

ATCTATCTGTCT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1334-003

chrX:
28675483-28675483

A

G

intronic

De novo

-

Yuen2017 G

IL1RAPL1

1-0677-003

chrX:
29515184-29515184

T

G

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1364-003

chrX:
29821516-29821545

ATATATGTGTATATGTGTATATGTGTATAT

ATATATGTGTATATGTGTATAT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

5-0109-003

chrX:
29258332-29258341

TATATATATA

T

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU3703302

chrX:
29788105-29788105

T

C

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1635-004

chrX:
30101046-30101046

C

G

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

AU2371303

chrX:
29938021-29938021

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

IL1RAPL1

1-0604-003

chrX:
28988019-28988026

AACACACA

AACACA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-1407-003

chrX:
29682749-29682749

C

T

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4219302

chrX:
29254227-29254227

G

A

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-0142-003

chrX:
28700134-28700136

CAT

C

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4283301

chrX:
28810965-28810970

TATAAA

TA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4013302

chrX:
29099057-29099068

CTTTCTTTCTTT

CTTTCTTTCTTTTCTTTCTTT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

1-0394-003

chrX:
30224128-30224128

T

A

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

AU072904

chrX:
30136981-30136981

A

G

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

AU4093301

chrX:
28732209-28732209

G

T

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU046708

chrX:
29337270-29337272

TCT

TCTATCTATCTGTCTGTCTGCCT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

2-0198-004

chrX:
29920927-29920927

A

AAAAT

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4153301

chrX:
29328244-29328268

AAAGAAAGGAAAAAAAAAAAAACAA

AAA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU1521301

chrX:
28810965-28810970

TATAAA

TA

intronic

De novo

-

Yuen2017 G

IL1RAPL1

AU4476302

chrX:
30083733-30083733

A

C

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

1-0244-003

chrX:
30002734-30002741

TTCTCTCT

TTCT

intergenic

De novo

-

Yuen2017 G

IL1RAPL1

2-1381-003

chrX:
28810965-28810970

TATAAA

TA

intronic

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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