LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0001798)
Patient ID Patient 70
Disease -
Reference Omoyinmi et al., 2017
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient was diagnosed with idiopathic alveolar hypoplasia and pulmonary hypertension.
Ethnic origin Indian

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 36
DNA change c.2852A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.(Asn951Ser)
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00079

2 entries 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 07 c.983G>A - Substitution Missense p.Gly328Glu - - - COL5A1_00257
-/- Unknown 36 c.2852A>G dbSNP Substitution Missense p.(Asn951Ser) - - - COL5A1_00079