All variants in the FREM1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.516C>T r.(?) p.(Thr172=) - benign g.14859296G>A g.14859298G>A FREM1(NM_144966.5):c.516C>T (p.T172=) - FREM1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.516C>T r.(=) p.(=) - likely benign g.14859296G>A g.14859298G>A - - FREM1_000175 155 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41265310 Germline - 155/2795 individuals - 0 - Mohammed Faruq
-?/. - c.516C>T r.(=) p.(=) - likely benign g.14859296G>A g.14859298G>A - - FREM1_000175 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41265310 Germline - 3/2795 individuals - 0 - Mohammed Faruq
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