LOVD - Variant listings for ADAMTS2

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Patient data (#0001840)
Patient ID Patient 4
Disease -
Reference van der Wekken et al., 2017
Template DNA
Technique WES
Remarks This variant is associated with afatinib-resistance in non-small cell lung carcinoma (NSCLC) patients that have been previously treated with geftinib or erlotinib, and subsequently with afatinib. The variant has a CADD score of 40, and is highly deleterious.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 21
DNA change c.3155C>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Nonsense
Protein p.Ser1052*
RNA change -
Re-site -
Frequency -
DB-ID ADAMTS2_00017

1 entry in ADAMTS2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown 21 c.3155C>A - Substitution Nonsense p.Ser1052* - - - ADAMTS2_00017