All variants in the FMR1 gene

Information The variants shown are described using the NM_002024.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-?/. 17 c.1857C>T - r.(?) p.(Asp619=) - likely benign g.147030322C>T g.147948802C>T D619D - FMR1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 families - 0 - Lucy Raymond
-?/. - c.1857C>T - r.(?) p.(Asp619=) - likely benign g.147030322C>T g.147948802C>T FMR1(NM_001185075.1):c.1586C>T (p.T529I, p.(Thr529Ile)) - FMR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1857C>T - r.(?) p.(Asp619=) - likely benign g.147030322C>T g.147948802C>T FMR1(NM_001185075.1):c.1586C>T (p.T529I, p.(Thr529Ile)) - FMR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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