All variants in the FREM1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1493G>A r.(?) p.(Arg498Gln) - VUS g.14842559C>T g.14842561C>T FREM1(NM_144966.5):c.1493G>A (p.R498Q) - FREM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/? ? c.1493G>A r.(?) p.(Arg498Gln) - pathogenic g.14842559C>T g.14842561C>T - - FREM1_000001 submitted through SIB; ExPASy_067916; {dbSNP184394424} PubMed: Vissers et al (2011) - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. - c.1493G>A r.(?) p.(Arg498Gln) - VUS g.14842559C>T g.14842561C>T FREM1(NM_144966.5):c.1493G>A (p.R498Q) - FREM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1493G>A r.(?) p.(Arg498Gln) - VUS g.14842559C>T g.14842561C>T - - FREM1_000001 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184394424 Germline - 1/2791 individuals - 0 - Mohammed Faruq
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