All variants in the FMR1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
-?/. 5 c.414G>A - r.(?) p.(Arg138=) - likely benign g.147010320G>A g.147928802G>A R138R - FMR1_000002 recurrent, found 21 times PubMed: Tarpey 2009 - - Germline - 21/208 families - 0 - Lucy Raymond
-/. - c.414G>A - r.(?) p.(Arg138=) - benign g.147010320G>A g.147928802G>A FMR1(NM_002024.5):c.414G>A (p.R138=) - FMR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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