This page is now frozen. The data can now be accessed at
https://databases.lovd.nl/shared/genes/FAM46A

LOVD - Variant listings for FAM46A

About this overview [Show]

Patient data (#0003518)
Patient ID Patient 2
Disease OI
Reference Doyard et al., 2018
Template DNA
Technique PCR, SEQ
Remarks There are two affected individuals in the same family, each homozygous for the variant.
Ethnic origin French

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02
ClinVar -
DNA change c.380A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(His127Arg)
RNA change -
Re-site -
DB-ID FAM46A_00002

2 entries in FAM46A

Path.
Allele Descending
Ascending
Exon Descending
Ascending
ClinVar 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
DB-ID Descending
Ascending
+/+ Paternal (confirmed) 02 - c.380A>G - Substitution Missense p.(His127Arg) - - FAM46A_00002
+/+ Maternal (confirmed) 02 - c.380A>G - Substitution Missense p.(His127Arg) - - FAM46A_00002