All variants in the FMR1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000005 - - - - Germline - - - 0 - Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000005 - - - - Germline - - - 0 - Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000005 - - - - Germline - - - 0 - Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000005 - - - - Germline - - - 0 - Simon Ardui
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