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     
+?/. 1 c.(-144_-16)ins(93) GGM[51] r.(?) p.(=) - likely pathogenic (recessive) g.(146993554_146993682)insN[93] g.(147912036_147912164)insN[93] - - FMR1_000100 - PubMed: Snow 1993 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.(-144_-16)ins(93) GGM[51] r.(?) p.(=) - likely pathogenic (recessive) g.(146993554_146993682)insN[93] g.(147912036_147912164)insN[93] - - FMR1_000100 - PubMed: Snow 1993 - - Germline - - - 0 - Johan den Dunnen
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