Full data view for gene FKBP6

Information The variants shown are described using the NM_003602.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.107G>A r.(?) p.(Arg36Gln) Unknown - likely benign g.72742627G>A g.73328624G>A FKBP6(NM_001135211.1):c.92G>A (p.(Arg31Gln)) - FKBP6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>T r.(?) p.(=) Unknown - likely benign g.72743403C>T - FKBP6(NM_003602.5):c.216C>T (p.(Phe72=)) - TRIM50_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352T>A r.(?) p.(Tyr118Asn) Unknown - VUS g.72744239T>A g.73330236T>A FKBP6(NM_003602.3):c.352T>A (p.(Tyr118Asn)) - FKBP6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368G>C r.(?) p.(Cys123Ser) Unknown - likely benign g.72744255G>C - FKBP6(NM_003602.4):c.368G>C (p.(Cys123Ser)) - TRIM50_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.469-2A>T r.(469_588del) p.(Glu157GlyfsTer13) Both (homozygous) - likely pathogenic (recessive) g.72745658A>T g.73331655A>T - - FKBP6_000003 effect on splicing predicted from in vitro mini-gene splicing assay PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM Imp001 PubMed: Wyrwoll 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.508_529dup r.(?) p.(Phe177CysfsTer20) Both (homozygous) - pathogenic (recessive) g.72745699_72745720dup g.73331696_73331717dup - - FKBP6_000004 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES INFM RU02135 PubMed: Wyrwoll 2022 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.508_529dup r.(?) p.(Phe177CysfsTer20) Both (homozygous) - pathogenic (recessive) g.72745699_72745720dup g.73331696_73331717dup - - FKBP6_000004 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM M2548 PubMed: Wyrwoll 2022 - M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.508_529dup r.(?) p.(Phe177CysfsTer20) Paternal (inferred) - likely pathogenic (recessive) g.72745699_72745720dup g.73331696_73331717dup - - FKBP6_000004 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM M2546 PubMed: Wyrwoll 2022 - M - Kyrgyzstan (Kyrgyz Republic) - - - - - 1 Johan den Dunnen
+/. - c.589-2A>G r.[588_589ins[589-55_589-3;gg],589_616del] p.[Ala197GlyfsTer31,Ala197HisfsTer18] Both (homozygous) - pathogenic (recessive) g.72754638A>G g.73340636A>G - - FKBP6_000005 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - INFM M1400 PubMed: Wyrwoll 2022 - M - Syria - - - - - 1 Johan den Dunnen
+?/. - c.610C>T r.(?) p.(Arg204Ter) Both (homozygous) - likely pathogenic (recessive) g.72754661C>T g.73340659C>T - - FKBP6_000006 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM M1813 PubMed: Wyrwoll 2022 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.832C>T r.(?) p.(Arg278Ter) Maternal (confirmed) - pathogenic (recessive) g.72755320C>T g.73341321C>T - - FKBP6_000007 - PubMed: Wyrwoll 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - INFM M2546 PubMed: Wyrwoll 2022 - M - Kyrgyzstan (Kyrgyz Republic) - - - - - 1 Johan den Dunnen
-?/. - c.859C>A r.(?) p.(His287Asn) Unknown - likely benign g.72755347C>A - FKBP6(NM_003602.4):c.859C>A (p.(His287Asn)) - FKBP6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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