LOVD - Variant listings for TNXB

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Patient data (#0001891)
Patient ID IVAD82
Disease Artery dissections
Reference Wang et al., 2018
Template DNA
Technique SEQ, WES
Remarks The variants cause susceptibility towards the phenotype, but are not confirmed to be pathogenic in isolation.
Ethnic origin Han Chinese

Variant data
Allele Parent #2
Reported pathogenicity Unknown
Concluded pathogenicity No known pathogenicity
Exon 22
DNA change c.7802C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Pro2601Leu
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00028

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
?/- Parent #2 22 c.7802C>T - Substitution Missense p.Pro2601Leu - - - TNXB_00028
?/- Parent #1 22i c.7826-4C>T - Substitution Splice site - - - - TNXB_00027