Variant Results

or

or

Results for "L2HGDH"

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

L2HGDH

iHART3126

chr14:
50769619-50769619

C

T

splicing

Maternal

splicing

25.6

Ruzzo2019 G

L2HGDH

mAGRE3127

chr14:
50769619-50769619

C

T

splicing

Maternal

splicing

25.6

Cirnigliaro2023 G

L2HGDH

mAGRE3126

chr14:
50769619-50769619

C

T

splicing

Maternal

splicing

25.6

Cirnigliaro2023 G

L2HGDH

MSSNG00167-003

chr14:
50716594-50716594

A

C

intronic

De novo

-

-

Trost2022 G

L2HGDH

1-0269-005

chr14:
50734701-50734701

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

L2HGDH

AU3124304

chr14:
50742585-50742585

C

T

intronic

De novo

-

-

Yuen2017 G

L2HGDH

iHART3127

chr14:
50769619-50769619

C

T

splicing

Maternal

splicing

25.6

Ruzzo2019 G

L2HGDH

1-0738-003

chr14:
50758279-50758279

G

C

intronic

De novo

-

-

Trost2022 G

L2HGDH

REACH000727

chr14:
50733695-50733695

T

C

intronic

De novo

-

-

Trost2022 G

L2HGDH

SP0038373

chr14:
50709753-50709753

A

G

UTR3

De novo

-

-

Fu2022 E
Trost2022 G

L2HGDH

MSSNG00103-004

chr14:
50738705-50738705

A

C

intronic

De novo

-

-

Trost2022 G

L2HGDH

MT_57.3

chr14:
50728061-50728061

C

A

intronic

De novo

-

-

Trost2022 G

L2HGDH

1-1224-003

chr14:
50730836-50730836

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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