Full data view for gene FLNA

Information The variants shown are described using the NM_001110556.1 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 - F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 mother of II-1 and II-5 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 mother of III-2, daughter of I-1, sister of II-5 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA, RNA, protein SEQ, RT-PCR - - Healthy/Control - PubMed: Gargiulo 2007 mother of IV-5; daughter of II-5 M - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA, RNA, protein SEQ, RT-PCR - - Healthy/Control - PubMed: Gargiulo 2007 son of III-2 M - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - IPOX - PubMed: Gargiulo 2007 mother of III-6, daughter of I-1, sister of II-1 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - IPOX - PubMed: Gargiulo 2007 mother of IV-1, daughter of II-1 F - Italy - - 0 - - 1 Yu Sun
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When using this database please refer to Sun et al. (2010), Terminal Osseous Dysplasia is caused by a single recurrent mutation in the FLNA gene. Am.J.Hum.Genet. 87: 146-153.