Variants - Leiden Muscular Dystrophy pages - Leiden Open Variation Database

Leiden Muscular Dystrophy pages

Titin (TTN)

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

NOTE: the TTN coding DNA reference sequence used has been changed to NM_001267550.1. For details see the TTN coding DNA reference sequence.

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 (#0025001)
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	326
DNA change	c.82740G>A (View in UCSC Genome Browser, Ensembl)
Var_pub_as	NM_003319.4:55545G>A (T18515T)
RNA change	r.(?)
Protein change	p.(=)
DB-ID	TTN_00259
Variant remarks	-
Genet_ori	germline (inherited)
Reference	Greenman 2007
Template	DNA
Technique	SEQ
Frequency	1/210 cancers
RE-site	-

11 entries in TTN

Path.

Allele

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site

?/?

Unknown

312

NM_003319.4:38264C>A (T12755K)

r.(?)

p.(Thr21820Lys)

TTN_00268

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

319

NM_003319.4:40410C>G (S13470R)

r.(?)

p.(Ser22535Arg)

TTN_00267

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

326

NM_003319.4:46630G>C (E15544Q)

r.(?)

p.(Glu24609Gln)

TTN_00262

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

326

NM_003319.4:52588G>C (D17530H)

r.(?)

p.(Asp26595His)

TTN_00261

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Parent #1

326

NM_003319.4:55545G>A (T18515T)

r.(?)

p.(=)

TTN_00259

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

327

NM_003319.4:59765A>G (K19922R)

r.(?)

p.(Lys28987Arg)

TTN_00264

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

339

NM_003319.4:66164T>C (L22055P)

r.(?)

p.(Leu31120Pro)

TTN_00265

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

343

NM_003319.4:68047C>T (R22683C)

r.(?)

p.(Arg31748Cys)

TTN_00266

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

356

NM_003319.4:72922G>A (G24308S)

r.(?)

p.(Gly33373Ser)

TTN_00023

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

360

NM_003319.4:79383T>A (S26461S)

r.(?)

p.(=)

TTN_00260

-

germline (inherited)

DNA

SEQ

1/210 cancers

-

?/?

Unknown

360

NM_003319.4:79385A>T (E26462V)

r.(?)

p.(Glu35527Val)

TTN_00263

-

germline (inherited)

DNA

SEQ

1/210 cancers

-