Full data view for gene FMR1

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     

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.(-144_-16)= GGM[20] r.(?) p.(=) Paternal (confirmed) - benign g.(146993554_146993682)= g.(147912036_147912164)= - - FMR1_000101 - PubMed: Snow 1993 - - Germline - - - 0 - DNA PAGE, PCR - - Healthy/Control FamInd4 PubMed: Snow 1993 mother of Ind9 F - United States - - 0 - - 1 Johan den Dunnen
-/. - c.(-144_-16)= GGM[20] r.(?) p.(=) Maternal (confirmed) - benign g.(146993554_146993682)= g.(147912036_147912164)= - - FMR1_000101 - PubMed: Snow 1993 - - Germline - - - 0 - DNA PAGE, PCR - - Healthy/Control FamInd8 PubMed: Snow 1993 sister Ind9 F - United States - - 0 - - 1 Johan den Dunnen
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