LOVD - Variant listings for TNXB

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Patient data (#0000854)
Patient ID Patient 1
Disease EDS AR
Reference Schalkwijk et al., 2001
Template DNA
Technique PCR, SEQ
Remarks This patient's mother was deceased, but the patient's sister was heterozygous for the variant, with the maternal allele carrying the deletion.
This patient was subsequently described by Voermans et al., 2007 and Voermans et al., 2007.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 08
DNA change c.3290_3291del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.(Lys1097Argfs*48)
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00001

2 entries in TNXB

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
+/+ Maternal (confirmed) 08 c.3290_3291del - Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001
+/+ Paternal (confirmed) 08 c.3290_3291del - Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001