Variant Results

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Results for "FAM8A1"

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

FAM8A1

PN400252

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

74-0115

chr6:
17610528-17610528

A

C

UTR3

De novo

-

-

Michaelson2012 G

FAM8A1

03C17053

chr6:
17600766-17600779

CCCCCAGGCCGAAC

CCCCCAGGCTTAAC

exonic

Inherited

nonframeshift substitution

NM_016255

c.135_136TT

N/A

-

-

Stessman2017 T

FAM8A1

03C16210

chr6:
17601019-17601019

G

T

exonic

Unknown

nonsynonymous SNV

NM_016255

c.G379T

p.G127C

23.2

Stessman2017 T

FAM8A1

12685.p1

chr6:
17606162-17606162

C

T

exonic

De novo

stopgain

NM_016255

c.C1015T

p.R339X

38.0

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Willsey2013 E

FAM8A1

PN400322

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

PN400538

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

4-0088-003

chr6:
17609876-17609876

C

T

UTR3

De novo

-

-

Trost2022 G

FAM8A1

PN400182

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

PN400111

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

AU062003

chr6:
17600766-17600779

CCCCCAGGCCGAAC

CCCCCAGGCTTAAC

exonic

Inherited

nonframeshift substitution

NM_016255

c.135_136TT

N/A

-

-

Stessman2017 T

FAM8A1

2-1407-003

chr6:
17605188-17605188

C

G

exonic

De novo

nonsynonymous SNV

NM_016255

c.C885G

p.D295E

15.5

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

FAM8A1

PN400100

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 E

FAM8A1

210-18196-302

chr6:
17600643-17600643

G

A

exonic

Inherited

nonsynonymous SNV

NM_016255

c.G3A

p.M1I

16.93

-

Stessman2017 T

FAM8A1

PN400477

chr6:
17601123-17601154

CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT

C

exonic

Unknown

frameshift deletion

NM_016255

c.484_514del

p.A162fs

-

-

Leblond2019 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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