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Leiden Muscular Dystrophy pages

Dystrophin-Associated Glycoprotein 1 (DAG1)

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 (#0002525)
Phenotype	-
Phenotype additional	-
Reference	JdD
Remarks	-
Geographic origin	- (not applicable)
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	5i
DNA change	c.285+42T>C (View in UCSC Genome Browser, Ensembl)
Var_pub_as	-
RNA change	r.(?)
Protein change	p.(=)
DB-ID	DAG1_00002
Variant remarks	-
Genet_ori	germline (inherited)
Reference	dbSNP-rs2329024
Template	DNA
Technique	SEQ
Frequency	0.88-1.00
RE-site	-

18 entries in DAG1

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

4i

-

r.(?)

p.(=)

DAG1_00010

-

germline (inherited)

dbSNP-rs7622302

DNA

SEQ

0.07-0.21

-

?/?

Parent #1

5

-

r.(?)

p.(Trp14Ser)

DAG1_00001

-

germline (inherited)

dbSNP-rs2131107

DNA

SEQ

0.00-0.12

-

?/?

Parent #1

5i

-

r.(?)

p.(=)

DAG1_00002

-

germline (inherited)

dbSNP-rs2329024

DNA

SEQ

0.88-1.00

-

?/?

Parent #1

5i

-

r.(?)

p.(=)

DAG1_00003

-

germline (inherited)

dbSNP-rs2311801

DNA

SEQ

0.00-0.11

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00005

-

germline (inherited)

dbSNP-rs2229010

DNA

SEQ

0.00-0.03

-

?/?

Unknown

6

2176C>T (F591F)

r.(?)

p.(=)

DAG1_00005

-

unknown

dbSNP-rs2229010

DNA

SEQ

-

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00004

-

germline (inherited)

dbSNP-rs1801143

DNA

SEQ

0.03-0.34

-

?/?

Unknown

6

2650C>T (H752H)

r.(?)

p.(=)

DAG1_00004

-

unknown

dbSNP-rs1801143

DNA

SEQ

-

-

?/?

Unknown

6

2864G>A (T824A)

r.(?)

p.(Ala824Thr)

DAG1_00018

-

unknown

dbSNP-rs1050090

DNA

SEQ

-

-

?/?

Unknown

6

2866T>C (A824A)

r.(?)

p.(=)

DAG1_00019

-

unknown

dbSNP-rs1063411

DNA

SEQ

-

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00006

-

germline (inherited)

DNA

SEQ

0.25-0.89

-

?/?

Unknown

6

3332C>T

r.(?)

p.(=)

DAG1_00006

-

unknown

dbSNP-rs1050088

DNA

SEQ

-

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00007

-

germline (inherited)

DNA

SEQ

0.30-0.42

-

?/?

Unknown

6

4420C>T

r.(?)

p.(=)

DAG1_00021

-

unknown

DNA

SEQ

-

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00008

-

germline (inherited)

DNA

SEQ

0.08-0.73

-

?/?

Unknown

6

5228G>C

r.(?)

p.(=)

DAG1_00022

-

unknown

DNA

SEQ

-

-

?/?

Unknown

6

5298G>C

r.(?)

p.(=)

DAG1_00023

-

unknown

dbSNP-rs1063430

DNA

SEQ

-

-

?/?

Parent #1

6

-

r.(?)

p.(=)

DAG1_00009

-

germline (inherited)

dbSNP-rs6446283

DNA

SEQ

0.89-1.00

-