All variants in the FREM1 gene

Information The variants shown are described using the NM_144966.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? ? c.3359A>T r.(?) p.(Gln1120Leu) - VUS g.14805066T>A g.14805068T>A - - FREM1_000122 variant marked as interesting (probably affects the function of the gene with phenotypic consequences) from an exome analysis. Please contact me. - - - Unknown - - - 1 - Johan den Dunnen
-?/. - c.3359A>T r.(?) p.(Gln1120Leu) - likely benign g.14805066T>A g.14805068T>A FREM1(NM_144966.5):c.3359A>T (p.Q1120L) - FREM1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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