Variant Results

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Results for "AFAP1L1"

Variant Events: 13

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

AFAP1L1

iHART1897

chr5:
148697447-148697447

C

T

exonic

Paternal

stopgain

NM_001146337
NM_152406

c.C1423T
c.C1423T

p.R475X
p.R475X

40.0

-

Ruzzo2019 G

AFAP1L1

1-0495-003

chr5:
148655030-148655046

CTCTTCTTCTTCTTCTT

CTCTTCTTCTTCTT

intronic

De novo

-

-

Yuen2017 G

AFAP1L1

SSC06985

chr5:
148699277-148699277

C

T

exonic

De novo

nonsynonymous SNV

NM_001146337
NM_152406

c.C1612T
c.C1612T

p.R538C
p.R538C

21.6

Fu2022 E
Lim2017 E
Trost2022 G

AFAP1L1

AU3053301

chr5:
148661726-148661726

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AFAP1L1

1-0299-003

chr5:
148681997-148681997

C

CA

exonic

De novo

frameshift insertion

NM_001146337
NM_152406

c.345dupA
c.345dupA

p.P115fs
p.P115fs

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AFAP1L1

mAGRE1897

chr5:
148697447-148697447

C

T

exonic

Paternal

stopgain

NM_001146337
NM_152406

c.C1423T
c.C1423T

p.R475X
p.R475X

40.0

-

Cirnigliaro2023 G

AFAP1L1

1-0569-003

chr5:
148683248-148683263

AACACACACACACACA

AACACACACACACA

intronic

De novo

-

-

Yuen2017 G

AFAP1L1

mAGRE4198

chr5:
148691769-148691769

T

C

splicing

Paternal

splicing

17.26

Cirnigliaro2023 G

AFAP1L1

13187.p1

chr5:
148699277-148699277

C

T

exonic

De novo

nonsynonymous SNV

NM_001146337
NM_152406

c.C1612T
c.C1612T

p.R538C
p.R538C

21.6

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

AFAP1L1

AU2108302

chr5:
148650921-148650921

C

G

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

AFAP1L1

REACH000409

chr5:
148662819-148662819

A

G

intronic

De novo

-

-

Trost2022 G

AFAP1L1

MSSNG00084-003

chr5:
148651319-148651319

G

T

upstream

De novo

-

-

Trost2022 G

AFAP1L1

MSSNG00368-003

chr5:
148652585-148652585

G

A

intronic

De novo

-

-

Trost2022 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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