Variant Results

or

Results for "AHDC1"

Variant Events: 16

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

AHDC1

SSC10417

chr1:
27877086-27877086

G

A

exonic

De novo

nonsynonymous SNV

NM_001029882

c.C1541T

p.S514L

10.46

2.499E-5

Lim2017 E

AHDC1

SF0136425.p1

chr1:
27874822-27874822

G

A

exonic

De novo

nonsynonymous SNV

NM_001029882

c.C3805T

p.R1269W

17.15

-

Wang2020 T

AHDC1

AU3727303

chr1:
27889632-27889646

ACACGCACGCACGCA

ACACGCACGCA

intronic

De novo

-

Yuen2017 G

AHDC1

SF0018463.p1

chr1:
27874338-27874338

T

TG

exonic

De novo

frameshift insertion

NM_001029882

c.4288dupC

p.Q1430fs

-

Wang2020 T

AHDC1

SF0012537.p1

chr1:
27877396-27877396

C

T

exonic

De novo

nonsynonymous SNV

NM_001029882

c.G1231A

p.G411S

18.03

-

Wang2020 T

AHDC1

SF0048552.p1

chr1:
27876808-27876808

C

T

exonic

De novo

nonsynonymous SNV

NM_001029882

c.G1819A

p.D607N

21.9

-

Wang2020 T

AHDC1

GX0190.p1

chr1:
27875353-27875353

A

AGGAGGAGGAGGAGGAGGAGG

exonic

Unknown

frameshift insertion

NM_001029882

c.3273_3274insCCTCCTCCTCCTCCTCCTCC

p.F1092fs

-

Wang2020 T

AHDC1

M12434

chr1:
27876625-27876625

G

A

exonic

Unknown

nonsynonymous SNV

NM_001029882

c.C2002T

p.R668C

19.02

-

Wang2020 T
Wang2020 T

AHDC1

434581

chr1:
27875761-27875761

G

A

exonic

Unknown

nonsynonymous SNV

NM_001029882

c.C2866T

p.R956C

23.6

-

Wang2020 T
Wang2020 T

AHDC1

1-0358-003

chr1:
27931220-27931221

CT

C

intergenic

De novo

-

Yuen2017 G

AHDC1

5-0077-003

chr1:
27870346-27870346

C

T

intronic

De novo

-

Yuen2017 G

AHDC1

13695.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001029882
NM_001029882

c.1758dupA
c.1757dupA

p.R587fs
p.K586fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T

AHDC1

14191.p1

chr1:
27877086-27877086

G

A

exonic

De novo

nonsynonymous SNV

NM_001029882

c.C1541T

p.S514L

10.46

2.499E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

AHDC1

AU006804

chr1:
27901050-27901050

G

A

intronic

De novo

-

Yuen2017 G

AHDC1

1-0998-003

chr1:
27921194-27921208

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

AHDC1

03C16906

chr1:
27875296-27875296

G

A

exonic

Unknown

nonsynonymous SNV

NM_001029882

c.C3331T

p.R1111W

17.38

-

Wang2020 T
Wang2020 T

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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