NOTE: the TTN coding DNA reference sequence used has been changed to NM_001267550.1. For details see the TTN coding DNA reference sequence.
LOVD - Variant listings for TTN

About this overview [Show]

Patient data (#0025013)
Phenotype adenocarcinoma, gastric
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 Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 358
DNA change c.102154C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as NM_003319.4:74959C>T (R24987W)
RNA change r.(?)
Protein change p.(Arg34052Trp)
DB-ID TTN_00290
Variant remarks -
Genet_ori somatic
Reference Greenman 2007
Template DNA
Technique SEQ
Frequency -
RE-site -

3 entries in TTN

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Parent #1 280 c.54189T>C NM_003319.4:26994T>C (Y8998Y) r.(?) p.(=) TTN_00289 - germline (inherited) Greenman 2007 DNA SEQ 1/210 cancers -
?/? Unknown 326 c.71401G>A NM_003319.4:44206G>A (V14736I) r.(?) p.(Val23801Ile) TTN_00291 - germline (inherited) Greenman 2007 DNA SEQ 1/210 cancers -
?/? Unknown 358 c.102154C>T NM_003319.4:74959C>T (R24987W) r.(?) p.(Arg34052Trp) TTN_00290 - somatic Greenman 2007 DNA SEQ - -