Variant Results

or

Results for "SPAG9"

Variant Events: 15

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

SPAG9

13837.p1

chr17:
49057167-49057167

C

T

exonic

De novo

nonsynonymous SNV

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.G2878A
c.G3307A
c.G3319A
c.G3349A

p.A960T
p.A1103T
p.A1107T
p.A1117T

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

SPAG9

SP0032331

chr17:
49124777-49124777

T

G

exonic

De novo

synonymous SNV

NM_001130527
NM_001130528
NM_003971

c.A549C
c.A549C
c.A549C

p.S183S
p.S183S
p.S183S

-

Fu2022 E

SPAG9

SP0046164

chr17:
49071269-49071269

C

T

exonic

De novo

nonsynonymous SNV

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.G1783A
c.G2212A
c.G2224A
c.G2254A

p.E595K
p.E738K
p.E742K
p.E752K

23.8

-

Fu2022 E

SPAG9

14165_p1

chr17:
49072429-49072434

GATCTA

G

exonic

De novo

frameshift deletion

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del

p.L580fs
p.L723fs
p.L727fs
p.L737fs

-

Fu2022 E

SPAG9

SP0087233

chr17:
49091721-49091721

A

T

intronic

De novo

-

Fu2022 E

SPAG9

SSC10776

chr17:
49072429-49072434

GATCTA

G

exonic

frameshift deletion

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del

p.L580fs
p.L723fs
p.L727fs
p.L737fs

-

Antaki2022 GE

SPAG9

1-0044-003

chr17:
49154993-49154993

T

A

intronic

De novo

-

Yuen2017 G

SPAG9

7-0171-003

chr17:
49010825-49010825

C

T

intergenic

De novo

-

Yuen2017 G

SPAG9

2-1381-003

chr17:
49085685-49085695

AGAAATGAAAT

AGAAAT

intronic

De novo

-

Yuen2017 G

SPAG9

AU4168306

chr17:
48964347-48964347

C

T

intergenic

De novo

-

Yuen2017 G

SPAG9

SP0044547

chr17:
49062289-49062289

C

T

exonic

De novo

nonsynonymous SNV

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.G2612A
c.G3041A
c.G3053A
c.G3083A

p.G871E
p.G1014E
p.G1018E
p.G1028E

27.2

-

Fu2022 E

SPAG9

1-0125-003

chr17:
49122935-49122935

C

G

intronic

De novo

-

Yuen2017 G

SPAG9

1-0495-003

chr17:
48962809-48962809

G

A

intergenic

De novo

-

Yuen2017 G

SPAG9

14165.p1

chr17:
49072429-49072434

GATCTA

G

exonic

De novo

frameshift deletion

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del

p.L580fs
p.L723fs
p.L727fs
p.L737fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SPAG9

SSC08741

chr17:
49057167-49057167

C

T

exonic

De novo

nonsynonymous SNV

NM_001251971
NM_003971
NM_001130527
NM_001130528

c.G2878A
c.G3307A
c.G3319A
c.G3349A

p.A960T
p.A1103T
p.A1107T
p.A1117T

34.0

-

Fu2022 E
Lim2017 E

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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