Variant Results

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or

Results for "SLC38A10"

Variant Events: 18

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

SLC38A10

04C37819

chr17:
79250915-79250915

G

A

exonic

De novo

synonymous SNV

NM_001037984
NM_138570

c.C645T
c.C645T

p.Y215Y
p.Y215Y

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC38A10

1-0750-003

chr17:
79233176-79233176

C

T

intronic

De novo

-

-

Trost2022 G

SLC38A10

5-5146-004

chr17:
79248381-79248381

A

G

intronic

De novo

-

-

Trost2022 G

SLC38A10

G01_GEA532HI

chr17:
79219963-79219963

C

G

exonic

De novo

nonsynonymous SNV

NM_001037984

c.G2753C

p.G918A

8.026

-

Fu2022 E

SLC38A10

SP0160569

chr17:
79220743-79220743

C

G

exonic

De novo

nonsynonymous SNV

NM_001037984

c.G2184C

p.E728D

23.9

-

Trost2022 G

SLC38A10

5-1008-003

chr17:
79223204-79223204

A

C

intronic

De novo

-

-

Trost2022 G

SLC38A10

SP0164334

chr17:
79220152-79220152

G

A

exonic

De novo

nonsynonymous SNV

NM_001037984

c.C2564T

p.P855L

3.041

Trost2022 G

SLC38A10

2-1323-003

chr17:
79225309-79225309

C

T

exonic

De novo

synonymous SNV

NM_001037984
NM_138570

c.G2049A
c.G2049A

p.A683A
p.A683A

-

Yuen2016 G

SLC38A10

mAGRE2442

chr17:
79219382-79219386

CCTGT

C

exonic

Paternal

frameshift deletion

NM_001037984

c.3330_3333del

p.R1110fs

-

-

Cirnigliaro2023 G

SLC38A10

mAGRE2440

chr17:
79219382-79219386

CCTGT

C

exonic

Paternal

frameshift deletion

NM_001037984

c.3330_3333del

p.R1110fs

-

-

Cirnigliaro2023 G

SLC38A10

1-0599-005

chr17:
79255954-79255954

C

CT

intronic

De novo

-

-

Trost2022 G

SLC38A10

iHART2440

chr17:
79219382-79219386

CCTGT

C

exonic

Paternal

frameshift deletion

NM_001037984

c.3330_3333del

p.R1110fs

-

-

Ruzzo2019 G

SLC38A10

mAGRE3240

chr17:
79226355-79226355

C

A

exonic

Paternal

stopgain

NM_001037984
NM_138570

c.G1585T
c.G1585T

p.G529X
p.G529X

39.0

-

Cirnigliaro2023 G

SLC38A10

2-0303-004

chr17:
79250915-79250915

G

A

exonic

De novo

synonymous SNV

NM_001037984
NM_138570

c.C645T
c.C645T

p.Y215Y
p.Y215Y

-

Yuen2015 G
Yuen2017 G
Zhou2022 GE

SLC38A10

iHART3240

chr17:
79226355-79226355

C

A

exonic

Paternal

stopgain

NM_001037984
NM_138570

c.G1585T
c.G1585T

p.G529X
p.G529X

39.0

-

Ruzzo2019 G

SLC38A10

929_15au

chr17:
79226252-79226252

T

C

exonic

De novo

nonsynonymous SNV

NM_001037984
NM_138570

c.A1688G
c.A1688G

p.Q563R
p.Q563R

12.77

Fu2022 E

SLC38A10

iHART2442

chr17:
79219382-79219386

CCTGT

C

exonic

Paternal

frameshift deletion

NM_001037984

c.3330_3333del

p.R1110fs

-

-

Ruzzo2019 G

SLC38A10

A11

chr17:
79251747-79251747

G

T

intronic

De novo

-

-

Wu2018 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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