All variants in the FMR1NB gene

Information The variants shown are described using the NM_152578.2 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.425C>T r.(?) p.(Ala142Val) - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 - - - - Germline - - - - - Yu Sun
?/. - c.425C>T r.(?) p.(Ala142Val) - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 - - - - Germline - - - - - Yu Sun
?/. - c.425C>T r.(?) p.(Ala142Val) - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 recurrent, found 71 times PubMed: Tarpey 2009 - - Germline - 71/208 cases - 0 - Lucy Raymond
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