Full data view for gene FMR1

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

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

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     
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB - - POF - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - POF - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB - - Healthy/Control - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - Healthy/Control - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - - - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - 1 Simon Ardui
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? Parent #1 - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - 0 - DNA SEQ-PB blood - POF - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - 1 Simon Ardui
Legend   How to query