Variant Results

or

Results for "KIF1A"

Variant Events: 23

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

KIF1A

PN400289

chr2:
241658551-241658551

G

A

exonic

Unknown

nonsynonymous SNV

NM_004321
NM_001244008

c.C4783T
c.C5086T

p.R1595C
p.R1696C

23.6

-

Leblond2019 E

KIF1A

Hu2022:31

chr2:
241702608-241702608

C

T

exonic

Unknown

nonsynonymous SNV

NM_004321
NM_001244008

c.G1897A
c.G1924A

p.D633N
p.D642N

19.38

-

Hu2022 T

KIF1A

AU2793302

chr2:
241688815-241688815

A

C

intronic

De novo

-

Yuen2017 G

KIF1A

14260.p1

chr2:
241680764-241680764

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_004321
NM_001244008

c.G3368A
c.G3671A

p.R1123Q
p.R1224Q

12.18

7.809E-5

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

KIF1A

12028.p1

chr2:
241724471-241724471

C

T

exonic

Mosaic

nonsynonymous SNV

NM_004321
NM_001244008

c.G655A
c.G655A

p.A219T
p.A219T

29.8

-

Krupp2017 E

KIF1A

1-0389-004

chr2:
241757985-241757987

TCC

T

intronic

De novo

-

Yuen2017 G

KIF1A

SP0042217

chr2:
241685121-241685121

G

A

intronic

De novo

-

6.0E-4

Fu2022 E

KIF1A

1-0225-003

chr2:
241757088-241757088

C

T

intronic

De novo

-

Yuen2017 G

KIF1A

SP0060728

chr2:
241689847-241689847

T

G

exonic

De novo

synonymous SNV

NM_004321
NM_001244008

c.A2673C
c.A2976C

p.S891S
p.S992S

-

Fu2022 E

KIF1A

1-0433-003

chr2:
241738625-241738625

G

A

intronic

De novo

-

Yuen2017 G

KIF1A

2-1276-003

chr2:
241768880-241768880

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KIF1A

AU4483301

chr2:
241692021-241692021

G

A

intronic

De novo

-

Yuen2017 G

KIF1A

14260_p1

chr2:
241680764-241680764

C

T

exonic

De novo

nonsynonymous SNV

NM_004321
NM_001244008

c.G3368A
c.G3671A

p.R1123Q
p.R1224Q

12.18

7.809E-5

Fu2022 E

KIF1A

09C98909

chr2:
241660401-241660401

C

A

exonic

De novo

nonsynonymous SNV

NM_004321
NM_001244008

c.G4495T
c.G4798T

p.V1499L
p.V1600L

7.745

5.0E-4

Satterstrom2020 E

KIF1A

SP0098901

chr2:
241696700-241696700

G

T

intronic

De novo

-

Fu2022 E

KIF1A

SP0035356

chr2:
241658501-241658501

C

T

exonic

De novo

synonymous SNV

NM_004321
NM_001244008

c.G4833A
c.G5136A

p.K1611K
p.K1712K

-

Fu2022 E

KIF1A

AU3727302

chr2:
241704584-241704584

C

T

intronic

De novo

-

Yuen2017 G

KIF1A

SSC08761

chr2:
241679060-241679060

G

A

intronic

-

Antaki2022 GE

KIF1A

21870-36159

chr2:
241696767-241696767

C

T

exonic

Inherited

nonsynonymous SNV

NM_001244008

c.G2827A

p.D943N

33.0

-

Callaghan2019 G

KIF1A

Hu2022:73

chr2:
241700653-241700653

T

C

exonic

De novo

nonsynonymous SNV

NM_004321
NM_001244008

c.A2231G
c.A2258G

p.K744R
p.K753R

17.45

-

Hu2022 T

KIF1A

2-1093-003

chr2:
241679858-241679858

G

A

intronic

De novo

-

Yuen2017 G

KIF1A

AU4153301

chr2:
241789871-241789871

T

C

intergenic

De novo

-

Yuen2017 G

KIF1A

12614.p1

chr2:
241706757-241706757

T

C

exonic

Mosaic Pat.

synonymous SNV

NM_004321
NM_001244008

c.A1476G
c.A1503G

p.P492P
p.P501P

-

0.0212

Dou2017 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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