Variant Results

or

Results for "SPTAN1"

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

SPTAN1

14468.p1

chr9:
131386710-131386710

A

G

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.A5861G
c.A5921G
c.A5936G

p.E1954G
p.E1974G
p.E1979G

21.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SPTAN1

Hu2022:74

chr9:
131389713-131389713

G

A

exonic

Unknown

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.G6550A
c.G6610A
c.G6625A

p.D2184N
p.D2204N
p.D2209N

17.85

-

Hu2022 T

SPTAN1

SP0139698

chr9:
131329120-131329120

C

T

exonic

De novo

nonsynonymous SNV

NM_001130438
NM_001195532
NM_003127

c.C101T
c.C101T
c.C101T

p.T34I
p.T34I
p.T34I

15.34

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTAN1

SP0007582

chr9:
131369911-131369911

C

T

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_001130438
NM_003127

c.C4015T
c.C4075T
c.C4075T

p.R1339W
p.R1359W
p.R1359W

21.5

3.295E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

SPTAN1

GM181800

chr9:
131383529-131383529

T

G

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.T5751G
c.T5811G
c.T5826G

p.I1917M
p.I1937M
p.I1942M

14.64

-

Fu2022 E

SPTAN1

80001102148

chr9:
131395574-131395574

C

T

exonic

De novo

synonymous SNV

NM_001195532
NM_003127
NM_001130438

c.C7320T
c.C7380T
c.C7395T

p.F2440F
p.F2460F
p.F2465F

-

6.61E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTAN1

SP0028260

chr9:
131388760-131388760

C

T

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.C6295T
c.C6355T
c.C6370T

p.R2099C
p.R2119C
p.R2124C

24.2

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SPTAN1

AU2564301

chr9:
131394916-131394916

T

C

exonic

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.T7004C
c.T7064C
c.T7079C

p.L2335P
p.L2355P
p.L2360P

23.3

-

Zhou2022 GE

SPTAN1

SP0010081

chr9:
131395176-131395176

C

T

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.C7175T
c.C7235T
c.C7250T

p.A2392V
p.A2412V
p.A2417V

35.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SPTAN1

MSSNG00044-003

chr9:
131394916-131394916

T

C

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.T7004C
c.T7064C
c.T7079C

p.L2335P
p.L2355P
p.L2360P

23.3

-

Trost2022 G
Zhou2022 GE

SPTAN1

mAGRE2820

chr9:
131340396-131340396

C

A

exonic

De novo

nonsynonymous SNV

NM_001130438
NM_001195532
NM_003127

c.C1093A
c.C1093A
c.C1093A

p.R365S
p.R365S
p.R365S

21.1

-

Cirnigliaro2023 G

SPTAN1

G01-GEA-35-HI

chr9:
131329241-131329241

C

T

exonic

De novo

synonymous SNV

NM_001130438
NM_001195532
NM_003127

c.C222T
c.C222T
c.C222T

p.D74D
p.D74D
p.D74D

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPTAN1

iHART2820

chr9:
131340396-131340396

C

A

exonic

De novo

nonsynonymous SNV

NM_001130438
NM_001195532
NM_003127

c.C1093A
c.C1093A
c.C1093A

p.R365S
p.R365S
p.R365S

21.1

-

Ruzzo2019 G

SPTAN1

SSC12057

chr9:
131386710-131386710

A

G

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.A5861G
c.A5921G
c.A5936G

p.E1954G
p.E1974G
p.E1979G

21.4

-

Fu2022 E
Lim2017 E
Trost2022 G

SPTAN1

08C74956

chr9:
131394916-131394916

T

C

exonic

De novo

nonsynonymous SNV

NM_001195532
NM_003127
NM_001130438

c.T7004C
c.T7064C
c.T7079C

p.L2335P
p.L2355P
p.L2360P

23.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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