LOVD - Variant listings for COL5A1

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Patient data (#0001802)
Patient ID
Disease -
Reference Modi et al., 2017
Template DNA
Technique PCR, SEQ, WES
Remarks This patient was born from a pregnancy complicated by preterm premature rupture of membranes (PPROM).
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
Exon 02
DNA change c.194G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Arg65Gln
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00258

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 02 c.194G>A - Substitution Missense p.Arg65Gln - - - COL5A1_00258