Variant Results

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Results for "IFT43"

Variant Events: 16

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

IFT43

SP0040574

chr14:
76455230-76455230

G

A

exonic

De novo

synonymous SNV

NM_001102564
NM_001255995
NM_052873

c.G57A
c.G57A
c.G57A

p.R19R
p.R19R
p.R19R

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

IFT43

AU3891302

chr14:
76557722-76557722

T

C

intergenic

De novo

-

-

Yuen2017 G

IFT43

mAGRE2150

chr14:
76549590-76549591

AC

A

exonic

Maternal

frameshift deletion

NM_052873
NM_001102564

c.481delC
c.466delC

p.L161fs
p.L156fs

-

-

Cirnigliaro2023 G

IFT43

2-0286-004

chr14:
76567409-76567409

C

T

intergenic

De novo

-

-

Yuen2017 G

IFT43

REACH000380

chr14:
76524079-76524079

G

C

intronic

De novo

-

-

Trost2022 G

IFT43

MSSNG00026-003

chr14:
76524312-76524312

A

G

intronic

De novo

-

-

Trost2022 G

IFT43

1-0671-003

chr14:
76499892-76499896

AGACT

A

intronic

De novo

-

-

Trost2022 G

IFT43

10-0001-003

chr14:
76516144-76516150

AGGTCTC

TTT

intronic

De novo

-

-

Trost2022 G

IFT43

5-0076-003

chr14:
76458650-76458650

G

A

intronic

De novo

-

-

Trost2022 G

IFT43

1-0965-003

chr14:
76534272-76534272

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IFT43

7-0288-004

chr14:
76467605-76467605

A

G

intronic

De novo

-

-

Trost2022 G

IFT43

2-0300-003

chr14:
76484570-76484570

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IFT43

iHART2150

chr14:
76549590-76549591

AC

A

exonic

Maternal

frameshift deletion

NM_052873
NM_001102564

c.481delC
c.466delC

p.L161fs
p.L156fs

-

-

Ruzzo2019 G

IFT43

MSSNG00027-003

chr14:
76541697-76541697

C

A

intronic

De novo

-

-

Trost2022 G

IFT43

AU4176302

chr14:
76483071-76483071

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IFT43

3-0065-000

chr14:
76505250-76505250

A

T

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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