Variants - Leiden Muscular Dystrophy pages - Leiden Open Variation Database

Leiden Muscular Dystrophy pages

Caveolin-3 (CAV3)

LOVD v.2.0 Build 35 [ Current LOVD status ]
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Curator: Johan den Dunnen

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000398)
Phenotype	-
Phenotype additional	-
Reference	JdD
Remarks	-
Geographic origin	-
Ethnic origin	-
Gender	-
Inheritance	unknown
Consanguinity	-
Fam_Pat	-
# reported	1
CK level	-
Protein data	-
Submitter	Johan den Dunnen

Variant data
Allele	Parent #1
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	2
DNA change	c.*645A>T (View in UCSC Genome Browser, Ensembl)
Var_pub_as	-
RNA change	r.(?)
Protein change	p.(=)
DB-ID	CAV3_00008
Variant remarks	-
Genet_ori	germline (inherited)
Segregation	-
Reference	dbSNP-rs11476
Template	DNA
Technique	SEQ
Frequency	0.18-0.46
RE-site	-

18 entries in CAV3

Path.

Allele

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Segregation

Reference

Template

Technique

Frequency

RE-site

?/?

Parent #1

1

-

r.(?)

p.(=)

CAV3_00035

-

germline (inherited)

-

DNA

SEQ

0.00-0.04

-

?/?

Parent #1

1

-

r.(?)

p.(=)

CAV3_00062

-

germline (inherited)

-

dbSNP-rs2072583

DNA

SEQ

0.20-0.24

-

-/?

Parent #1

1

-

r.(?)

p.(=)

CAV3_00024

-

germline (inherited)

-

dbSNP-rs1974763

DNA

SEQ

0.00-0.39

-

-/?

Parent #1

1

-

r.(?)

p.(=)

CAV3_00016

-

germline (inherited)

-

dbSNP-rs1008642

DNA

SSCA

0.22-0.60

-

-?/?

Parent #1

1i

-

r.(?)

p.(=)

CAV3_00032

-

germline (inherited)

-

dbSNP-rs11922879

DNA

SEQ

0.00-0.01

-

?/?

Parent #1

1i

-

r.(?)

p.(=)

CAV3_00033

-

germline (inherited)

-

dbSNP-rs4686299

DNA

SEQ

0.00

-

?/?

Parent #1

1i

-

r.(?)

p.(=)

CAV3_00034

-

germline (inherited)

-

dbSNP-rs13060135

DNA

SEQ

0.00-0.18

-

-/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00025

-

germline (inherited)

-

dbSNP-rs13087941

DNA

SEQ

0.00-0.28

-

-?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00022

-

germline (inherited)

-

dbSNP-rs61147808

DNA

SEQ

-

-

+?/?

Parent #1

2

-

r.(?)

p.(Leu87Pro)

CAV3_00011

-

germline (inherited)

-

dbSNP-rs28936685

DNA

SEQ

-

-

+?/?

Parent #1

2

-

r.(?)

p.(Ala93Thr)

CAV3_00012

-

germline (inherited)

-

dbSNP-rs28936686

DNA

SEQ

-

BspMI+

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00026

-

germline (inherited)

-

dbSNP-rs13093809

DNA

SEQ

0.00-0.19

-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00008

-

germline (inherited)

-

DNA

SEQ

0.18-0.46

-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00027

-

germline (inherited)

-

dbSNP-rs1052354

DNA

SEQ

?

-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00028

-

germline (inherited)

-

dbSNP-rs7629329

DNA

SEQ

0.18-0.38

RsaI-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00009

-

germline (inherited)

-

dbSNP-rs56672907

DNA

SEQ

-

-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00036

-

germline (inherited)

-

DNA

SEQ

?

-

?/?

Parent #1

2

-

r.(?)

p.(=)

CAV3_00037

-

germline (inherited)

-

dbSNP-rs13067845

DNA

SEQ

?

-