Full data view for gene FMR1NB

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.136G>A r.(?) p.(Glu46Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404A>G r.(?) p.(Asn135Ser) Unknown - likely benign g.147088228A>G - FMR1NB(NM_152578.2):c.404A>G (p.N135S) - FMR1NB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425C>T r.(?) p.(Ala142Val) Maternal (inferred) - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.425C>T r.(?) p.(Ala142Val) Maternal (inferred) - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.425C>T r.(?) p.(Ala142Val) Parent #1 - VUS g.147088249C>T g.148006729C>T - - FMR1NB_000004 recurrent, found 71 times PubMed: Tarpey 2009 - - Germline - 71/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 71 Lucy Raymond
?/. - c.*13+144C>A r.(=) p.(=) Maternal (inferred) - VUS g.147106677C>A g.148025157= - - FMR1NB_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*13+144C>A r.(=) p.(=) Maternal (inferred) - VUS g.147106677C>A g.148025157= - - FMR1NB_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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