Variant Results

or

Results for "TTC21A"

Variant Events: 11

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

TTC21A

SP0147713

chr3:
39150712-39150712

A

T

intronic

De novo

-

Trost2022 G
Trost2022 G

TTC21A

SP0060543

chr3:
39166798-39166798

T

G

intronic

De novo

-

Fu2022 E

TTC21A

REACH000517

chr3:
39176003-39176003

G

C

intronic

De novo

-

Trost2022 G

TTC21A

iHART2291

chr3:
39159670-39159670

T

C

splicing

Paternal

splicing

6.1

4.145E-5

Ruzzo2019 G

TTC21A

12162.p1

chr3:
39170415-39170415

G

C

exonic

De novo

nonsynonymous SNV

NM_001105513
NM_145755

c.G1765C
c.G1909C

p.G589R
p.G637R

28.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TTC21A

SSC06038

chr3:
39170415-39170415

G

C

exonic

De novo

nonsynonymous SNV

NM_001105513
NM_145755

c.G1765C
c.G1909C

p.G589R
p.G637R

28.0

-

Fu2022 E
Lim2017 E
Trost2022 G

TTC21A

72-0745

chr3:
39171613-39171613

C

A

exonic

Inherited

nonsynonymous SNV

NM_001105513
NM_145755

c.C2056A
c.C2200A

p.L686M
p.L734M

16.46

8.446E-6

Patowary2019 E

TTC21A

Kim2020:B16

chr3:
39154020-39154020

C

A

exonic

De novo

stopgain

NM_145755

c.C507A

p.Y169X

20.8

-

Kim2020 E

TTC21A

mAGRE2291

chr3:
39159670-39159670

T

C

splicing

Paternal

splicing

6.1

4.145E-5

Cirnigliaro2023 G

TTC21A

7-0412-003

chr3:
39175759-39175759

G

C

exonic

De novo

synonymous SNV

NM_001105513
NM_145755

c.G2679C
c.G2823C

p.L893L
p.L941L

-

Trost2022 G
Zhou2022 GE

TTC21A

3-0654-000

chr3:
39162626-39162626

C

T

exonic

De novo

synonymous SNV

NM_001105513
NM_145755

c.C916T
c.C1063T

p.L306L
p.L355L

-

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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