Full data view for gene FXR1

Information The variants shown are described using the NM_005087.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.1242del r.(?) p.(Glu414Aspfs*6) Both (homozygous) - pathogenic (recessive) g.180685882del g.180968094del XM_005247813.3:c.1707delA - FXR1_000002 father not available PubMed: Estan 2019 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MYOP Fam2 PubMed: Estan 2019 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Canada - - 0 - - 3 Johan den Dunnen
?/. - c.1490A>C r.(?) p.(His497Pro) Unknown - VUS g.180688033A>C g.180970245A>C FXR1(NM_001013439.2):c.1235A>C (p.H412P) - FXR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1603+790_1603+793del r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.180688936_180688939del g.180971148_180971151del XM_005247813.2:c.1764_1767delACAG (Arg588Serfs*37) - FXR1_000001 - PubMed: Estan 2019 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES MYOP Fam1 PubMed: Estan 2019 5-generation family, 3 affected sibs (, unaffected heterozygous carrier parents/relatives F;M - Egypt - - 0 - - 3 Johan den Dunnen
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?] Both (homozygous) - pathogenic (recessive) g.180693986T>A g.180976198T>A - - FXR1_000004 - PubMed: Santos-Cortez 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID FamAP51Pat1 PubMed: Santos-Cortez 2018 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 3 Johan den Dunnen
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?] Both (homozygous) - pathogenic (recessive) g.180693986T>A g.180976198T>A - - FXR1_000004 - PubMed: Santos-Cortez 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID FamAP51Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - 0 - - 1 Johan den Dunnen
+/. - c.1772T>A r.[(1772u>a),spl] p.[(Ile591Asn),?] Both (homozygous) - pathogenic (recessive) g.180693986T>A g.180976198T>A - - FXR1_000004 - PubMed: Santos-Cortez 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID FamAP51Pat4 PubMed: Santos-Cortez 2018 - F yes Pakistan - - 0 - - 1 Johan den Dunnen
?/. - c.*8362G>T r.(=) p.(=) Unknown - VUS g.180702442G>T - DNAJC19(NM_001190233.1):c.262C>A (p.Q88K) - DNAJC19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8414T>G r.(=) p.(=) Unknown - likely benign g.180702494T>G - DNAJC19(NM_001190233.1):c.210A>C (p.G70=) - DNAJC19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9630_*9633del r.(=) p.(=) Unknown - VUS g.180703710_180703713del g.180985922_180985925del DNAJC19(NM_001190233.1):c.205+4_205+7del (p.?) - DNAJC19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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