Variant Results

or

Results for "HMCN1"

Variant Events: 51

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

HMCN1

A18

chr1:
185882429-185882429

G

A

intronic

De novo

-

Wu2018 G

HMCN1

AC02-1240-01

chr1:
185985113-185985113

T

C

exonic

De novo

synonymous SNV

NM_031935

c.T4933C

p.L1645L

-

8.261E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HMCN1

AU3636301

chr1:
185870438-185870438

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

12478.p1

chr1:
185833720-185833720

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_031935

c.C458T

p.T153I

23.4

8.302E-6

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Zhou2022 GE

HMCN1

2-1374-003

chr1:
185718850-185718850

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

mAGRE2618

chr1:
186099234-186099234

T

G

splicing

Maternal

splicing

23.3

8.262E-6

Cirnigliaro2023 G

HMCN1

mAGRE6033

chr1:
186050515-186050515

C

T

exonic

Paternal

stopgain

NM_031935

c.C8776T

p.R2926X

51.0

2.48E-5

Cirnigliaro2023 G

HMCN1

SP0042538

chr1:
186084456-186084456

C

T

exonic

De novo

nonsynonymous SNV

NM_031935

c.C11471T

p.A3824V

26.9

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

HMCN1

2-0070-004

chr1:
185962160-185962160

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

SP0086381

chr1:
185970854-185970854

C

T

exonic

De novo

synonymous SNV

NM_031935

c.C4329T

p.Y1443Y

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HMCN1

SP0076269

chr1:
185958767-185958767

C

T

exonic

De novo

synonymous SNV

NM_031935

c.C3196T

p.L1066L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HMCN1

1-0652-004

chr1:
185729516-185729516

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

AU3790301

chr1:
185938314-185938314

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

Lim2017:6239

chr1:
185984388-185984388

G

C

exonic

De novo

nonsynonymous SNV

NM_031935

c.G4728C

p.M1576I

11.22

-

Lim2017 E

HMCN1

11002.p1

chr1:
185871744-185871744

A

G

intronic

De novo

-

Turner2016 G

HMCN1

iHART2618

chr1:
186099234-186099234

T

G

splicing

Maternal

splicing

23.3

8.262E-6

Ruzzo2019 G

HMCN1

SP0113969

chr1:
186084510-186084510

A

G

exonic

De novo

nonsynonymous SNV

NM_031935

c.A11525G

p.H3842R

6.848

-

Fu2022 E
Zhou2022 GE

HMCN1

SP0052491

chr1:
186055530-186055530

A

C

exonic

De novo

nonsynonymous SNV

NM_031935

c.A9037C

p.I3013L

11.28

-

Fu2022 E

HMCN1

AU034903

chr1:
185857762-185857762

G

A

intronic

De novo

-

Yuen2017 G

HMCN1

AU076705

chr1:
185725128-185725128

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

AU055603

chr1:
185727964-185727964

T

A

intronic

De novo

-

Trost2022 G

HMCN1

3-0380-002

chr1:
185727397-185727398

AT

A

intronic

De novo

-

Trost2022 G

HMCN1

1-0699-003

chr1:
185974563-185974581

TAATTGTTTAAATTGTTTA

TAATTGTTTA

intronic

De novo

-

Yuen2017 G

HMCN1

MSSNG00111-004

chr1:
185765171-185765171

G

A

intronic

De novo

-

Trost2022 G

HMCN1

AU2250301

chr1:
185736126-185736126

G

T

intronic

De novo

-

Trost2022 G

HMCN1

2-0070-003

chr1:
185717703-185717704

GA

G

intronic

De novo

-

Trost2022 G

HMCN1

1-0043-004

chr1:
185849785-185849793

TTTTTAATA

T

intronic

De novo

-

Trost2022 G

HMCN1

1-1159-003

chr1:
185824203-185824203

G

A

intronic

De novo

-

Trost2022 G

HMCN1

3-0371-000

chr1:
185872849-185872849

G

C

intronic

De novo

-

Trost2022 G

HMCN1

MSSNG00212-003

chr1:
185861138-185861138

G

A

intronic

De novo

-

Trost2022 G

HMCN1

MSSNG00399-003

chr1:
185794550-185794550

T

TA

intronic

De novo

-

Trost2022 G

HMCN1

MSSNG00203-003

chr1:
185779368-185779368

C

T

intronic

De novo

-

Trost2022 G

HMCN1

SP0043735

chr1:
186017775-186017775

A

G

intronic

De novo

-

Fu2022 E

HMCN1

MSSNG00085-003

chr1:
185818216-185818216

G

C

intronic

De novo

-

Trost2022 G

HMCN1

4-0046-004

chr1:
185797486-185797486

A

G

intronic

De novo

-

Trost2022 G

HMCN1

5-5022-003

chr1:
185977883-185977883

C

T

intronic

De novo

-

Trost2022 G

HMCN1

2-1795-003

chr1:
185976516-185976516

G

C

intronic

De novo

-

Trost2022 G

HMCN1

MT_170.3

chr1:
186029365-186029369

CAGAT

C

intronic

De novo

-

Trost2022 G

HMCN1

4-0056-003

chr1:
185998563-185998563

G

A

intronic

De novo

-

Trost2022 G

HMCN1

1-0465-003A

chr1:
185915693-185915693

T

A

intronic

De novo

-

Trost2022 G

HMCN1

1024

chr1:
185906207-185906207

G

A

intronic

De novo

-

Trost2022 G

HMCN1

7-0419-003

chr1:
185960250-185960250

C

G

intronic

De novo

-

Trost2022 G

HMCN1

MSSNG00375-003

chr1:
185957621-185957621

G

GT

intronic

De novo

-

Trost2022 G

HMCN1

1675002

chr1:
186055470-186055470

C

T

exonic

De novo

nonsynonymous SNV

NM_031935

c.C8977T

p.P2993S

18.39

2.48E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HMCN1

ASC_CA_65_A

chr1:
186057403-186057403

G

A

exonic

De novo

nonsynonymous SNV

NM_031935

c.G9572A

p.R3191H

8.284

4.985E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HMCN1

1-0465-003a

chr1:
185915693-185915693

T

A

intronic

De novo

-

Yuen2017 G

HMCN1

SMHC01081s000

chr1:
185953329-185953329

G

A

exonic

De novo

nonsynonymous SNV

NM_031935

c.G2819A

p.R940H

32.0

2.475E-5

Yuan2023 E

HMCN1

Wang2023:543

chr1:
186038898-186038898

G

GA

exonic

De novo

frameshift insertion

NM_031935

c.7984dupA

p.V2661fs

-

Wang2023 E

HMCN1

2-1434-003

chr1:
185737010-185737010

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

HMCN1

AU4150301

chr1:
185840780-185840780

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HMCN1

1-0567-003

chr1:
185988492-185988492

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 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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