LOVD - Variant listings for COL5A1

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Patient data (#0001436)
Patient ID AN_005311
Disease TAAD
Reference Imperial College London, UK
Template DNA
Technique HTS
Remarks This patient has a diagnosis of Marfan syndrome (FBN1 positive), but on initial clinical evaluation was atypical for Marfan syndrome, initially classified as Other HDCT (phenotype largely outside EDS spectrum): Ghent systemic score =1, short stature, ectopia lentis, aortic enlargement, Mitral valve prolapse, family history of sudden death. [original ID: 66]
Ethnic origin Caucasian
Submitter Ruwan Weerakkody

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon 06
DNA change c.805G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Glu269Lys
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00185

1 entry in COL5A1

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 06 c.805G>A - Substitution Missense p.Glu269Lys - - - COL5A1_00185