Variants - Leiden Muscular Dystrophy pages - Leiden Open Variation Database

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 (#0010228)
Phenotype	Limb Girdle muscular dystrophy
Phenotype additional	-
Reference	Germany:Bochum
Remarks	-
Geographic origin	(Germany)
Ethnic origin	-
Gender	?
Inheritance	unknown
Consanguinity	-
Fam_Pat	-
# reported	1
CK level	-
Protein data	-
Submitter	Gabriele Dekomien

Variant data
Allele	Parent #1
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
Exon	1_10
DNA change	c.=
Var_pub_as	-
RNA change	r.(=)
Protein change	p.(=)
DB-ID	SGCA_00000
Variant remarks	-
Genet_ori	germline (inherited)
Reference	-
Template	DNA
Technique	SEQ
Frequency	-
RE-site	-

1 entry in SGCA

Path.

Allele

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site

?/?

Parent #1

1_10

c.=

r.(=)

p.(=)

SGCA_00000

germline (inherited)

DNA

SEQ

1 entry in SGCB

Path.

Allele

Exon

Genet_ori

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Reference

Template

Technique

Frequency

RE-site

?/?

Parent #1

1_8

germline (inherited)

c.=

r.(=)

p.(=)

SGCB_00000

DNA

SEQ

2 entries in SGCG

Path.

Allele

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site

+/?

Parent #2

c.(?_-155)_385+?del

r.0?

p.0?

SGCG_00068

germline (inherited)

Wildforster 2009

DNA

SEQ

?/?

Parent #1

c.-1+5G>A

r.spl?

p.(?)

SGCG_00078

germline (inherited)

DNA

SEQ

Leiden Muscular Dystrophy pages

Sarcoglycan-alpha (SGCA)