Unique variants in the FMR1NB gene

Information The variants shown are described using the NM_152578.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

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     
-?/. 1 - c.136G>A r.(?) p.(Glu46Lys) - likely benign g.147063058G>A g.147981538G>A FMR1NB(NM_152578.2):c.136G>A (p.E46K) - FMR1NB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.404A>G r.(?) p.(Asn135Ser) - likely benign g.147088228A>G - FMR1NB(NM_152578.2):c.404A>G (p.N135S) - FMR1NB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - 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 - - - Yu Sun, Lucy Raymond
?/. 2 - c.*13+144C>A r.(=) p.(=) - VUS g.147106677C>A g.148025157= - - FMR1NB_000001 - - - - Germline - - - - - Yu Sun
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