Variant Results

or

Results for "AHRR"

Variant Events: 40

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

AHRR

5-5237-003

chr5:
319580-319580

C

T

intronic

De novo

-

Trost2022 G

AHRR

REACH000387

chr5:
338107-338107

G

A

intronic

De novo

-

Trost2022 G

AHRR

mAGRE3032

chr5:
427759-427759

G

GGTCACAGGCTTGGCAGCTGCGGCTCTGCT

exonic

Paternal

frameshift insertion

NM_020731

c.728_729insGTCACAGGCTTGGCAGCTGCGGCTCTGCT

p.G243fs

-

2.0E-4

Cirnigliaro2023 G

AHRR

7-0095-004

chr5:
433955-433955

C

G

intronic

De novo

-

2.005E-5

Trost2022 G
Yuen2017 G

AHRR

MSSNG00054-004

chr5:
374625-374625

T

G

intronic

De novo

-

Trost2022 G

AHRR

AU3399303

chr5:
355058-355058

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AHRR

1-0048-003

chr5:
376628-376628

T

G

intronic

De novo

-

Trost2022 G

AHRR

1-0404-003

chr5:
370270-370270

G

A

intronic

De novo

-

Trost2022 G

AHRR

AU4150301

chr5:
370898-370898

C

T

intronic

De novo

-

Trost2022 G

AHRR

AU1404301

chr5:
370179-370179

A

G

intronic

De novo

-

Trost2022 G

AHRR

1-0700-003A

chr5:
370201-370201

A

T

intronic

De novo

-

Trost2022 G

AHRR

7-0392-005

chr5:
354070-354070

G

C

intronic

De novo

-

Trost2022 G

AHRR

MSSNG00015-003

chr5:
359522-359522

T

A

intronic

De novo

-

Trost2022 G

AHRR

3-0325-000

chr5:
376671-376671

G

C

intronic

De novo

-

Trost2022 G

AHRR

7-0311-003

chr5:
376671-376671

G

C

intronic

De novo

-

Trost2022 G

AHRR

3-0446-000

chr5:
376660-376660

T

G

intronic

De novo

-

Trost2022 G

AHRR

AU4473301

chr5:
338794-338794

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AHRR

AU3918302

chr5:
376664-376664

T

G

intronic

De novo

-

Trost2022 G

AHRR

AU3787302

chr5:
376642-376642

G

A

intronic

De novo

-

Trost2022 G

AHRR

MSSNG00366-003

chr5:
376658-376658

T

G

intronic

De novo

-

Trost2022 G

AHRR

1-0107-003

chr5:
376633-376633

T

G

intronic

De novo

-

Trost2022 G

AHRR

2-1368-003

chr5:
376641-376641

G

A

intronic

De novo

-

Trost2022 G

AHRR

AU2495301

chr5:
314210-314210

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

AHRR

5-5164-003

chr5:
414205-414205

C

T

intronic

De novo

-

Trost2022 G

AHRR

MSSNG00348-003

chr5:
397809-397809

A

G

intronic

De novo

-

Trost2022 G

AHRR

3-0080-000

chr5:
398049-398049

C

T

intronic

De novo

-

Trost2022 G

AHRR

SSC00344

chr5:
376877-376877

C

T

intronic

De novo

-

2.0E-4

Trost2022 G

AHRR

10-0001-003

chr5:
382825-382825

G

C

intronic

De novo

-

Trost2022 G

AHRR

7-0327-003

chr5:
376671-376671

G

C

intronic

De novo

-

Trost2022 G

AHRR

AU3125301

chr5:
376671-376671

G

C

intronic

De novo

-

Trost2022 G

AHRR

2-1182-003

chr5:
422895-422895

C

G

exonic

De novo

nonsynonymous SNV

NM_001242412
NM_020731

c.C505G
c.C505G

p.Q169E
p.Q169E

19.68

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

AHRR

09C99813

chr5:
422895-422895

C

G

exonic

De novo

nonsynonymous SNV

NM_001242412
NM_020731

c.C505G
c.C505G

p.Q169E
p.Q169E

19.68

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AHRR

11114.p1

chr5:
376877-376877

C

T

intronic

De novo

-

2.0E-4

Satterstrom2020 E

AHRR

1-0215-006

chr5:
415341-415341

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AHRR

AU039304

chr5:
438413-438413

C

T

downstream

De novo

-

Yuen2017 G

AHRR

EGAN00001101049

chr5:
368071-368071

A

ATGGGGGAGCTGATGTTGTTTTGAGAGCCGTGCAGCTGGAGATCCGG

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AHRR

SP0046707

chr5:
434254-434254

C

A

exonic

De novo

nonsynonymous SNV

NM_001242412
NM_020731

c.C1411A
c.C1465A

p.P471T
p.P489T

5.653

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AHRR

SP0142449

chr5:
376636-376636

A

ACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAC

intronic

De novo

-

Fu2022 E

AHRR

AU3712302

chr5:
375638-375638

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AHRR

13874.p1

chr5:
396908-396908

G

C

intronic

De novo

-

Turner2016 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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