Full data view for gene IFRD1

Information The variants shown are described using the NM_001550.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
Legend  

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.87G>T r.(?) p.(Ala29=) Unknown - likely benign g.112090830G>T g.112450775G>T IFRD1(NM_001007245.2):c.87G>T (p.A29=) - IFRD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.200-14A>C r.(=) p.(=) Unknown - benign g.112096043A>C g.112455988A>C IFRD1(NM_001007245.2):c.200-14A>C, IFRD1(NM_001550.3):c.200-14A>C - IFRD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.200-14A>C r.(=) p.(=) Unknown - benign g.112096043A>C g.112455988A>C IFRD1(NM_001007245.2):c.200-14A>C, IFRD1(NM_001550.3):c.200-14A>C - IFRD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.200-14A>C r.(=) p.(=) Unknown - benign g.112096043A>C g.112455988A>C IFRD1(NM_001007245.2):c.200-14A>C, IFRD1(NM_001550.3):c.200-14A>C - IFRD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.213T>A r.(?) p.(Leu71=) Unknown - benign g.112096070T>A g.112456015T>A IFRD1(NM_001007245.2):c.213T>A (p.L71=), IFRD1(NM_001550.3):c.213T>A (p.L71=) - IFRD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213T>A r.(?) p.(Leu71=) Unknown - likely benign g.112096070T>A g.112456015T>A IFRD1(NM_001007245.2):c.213T>A (p.L71=), IFRD1(NM_001550.3):c.213T>A (p.L71=) - IFRD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.216T>C r.(?) p.(Asp72=) Unknown - benign g.112096073T>C g.112456018T>C IFRD1(NM_001007245.2):c.216T>C (p.D72=), IFRD1(NM_001550.3):c.216T>C (p.D72=) - IFRD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.216T>C r.(?) p.(Asp72=) Unknown - benign g.112096073T>C g.112456018T>C IFRD1(NM_001007245.2):c.216T>C (p.D72=), IFRD1(NM_001550.3):c.216T>C (p.D72=) - IFRD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.284+9T>A r.(=) p.(=) Unknown - likely benign g.112096150T>A g.112456095T>A IFRD1(NM_001007245.2):c.284+9T>A - IFRD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514A>G r.(?) p.(Ile172Val) Unknown - VUS g.112099020A>G g.112458965A>G IFRD1(NM_001007245.2):c.514A>G (p.I172V) - IFRD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.514A>G r.(?) p.(Ile172Val) Unknown - likely benign g.112099020A>G g.112458965A>G IFRD1(NM_001007245.2):c.514A>G (p.I172V) - IFRD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568-13_568-12insA r.(=) p.(=) Unknown - likely benign g.112101908_112101909insA g.112461853_112461854insA IFRD1(NM_001007245.2):c.568-13_568-12insA - IFRD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568-12T>A r.(=) p.(=) Unknown - benign g.112101909T>A g.112461854T>A IFRD1(NM_001007245.2):c.568-12T>A, IFRD1(NM_001550.3):c.568-12T>A - IFRD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568-12T>A r.(=) p.(=) Unknown - benign g.112101909T>A g.112461854T>A IFRD1(NM_001007245.2):c.568-12T>A, IFRD1(NM_001550.3):c.568-12T>A - IFRD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.568-12_568-11insA r.(=) p.(=) Unknown - likely benign g.112101909_112101910insA g.112461854_112461855insA IFRD1(NM_001007245.2):c.568-12_568-11insA - IFRD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-11T>A r.(=) p.(=) Unknown - benign g.112101910T>A g.112461855T>A IFRD1(NM_001007245.2):c.568-11T>A - IFRD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568-10T>A r.(=) p.(=) Unknown - benign g.112101911T>A g.112461856T>A IFRD1(NM_001007245.2):c.568-10T>A - IFRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.568-10T>A r.(=) p.(=) Unknown - likely benign g.112101911T>A g.112461856T>A IFRD1(NM_001007245.2):c.568-10T>A - IFRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-4_568-3del r.spl? p.? Unknown - benign g.112101917_112101918del g.112461862_112461863del IFRD1(NM_001007245.2):c.568-4_568-3delTT - IFRD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568-4_568-3del r.spl? p.? Unknown - benign g.112101917_112101918del g.112461862_112461863del IFRD1(NM_001007245.2):c.568-4_568-3delTT - IFRD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568-3del r.spl? p.? Unknown - benign g.112101918del g.112461863del IFRD1(NM_001007245.2):c.568-3delT - IFRD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.568-3del r.spl? p.? Unknown - likely benign g.112101918del g.112461863del IFRD1(NM_001007245.2):c.568-3delT - IFRD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.619-5A>G r.spl? p.? Unknown - likely benign g.112102051A>G g.112461996A>G IFRD1(NM_001007245.2):c.619-5A>G - IFRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.619-5A>G r.spl? p.? Unknown - likely benign g.112102051A>G g.112461996A>G IFRD1(NM_001007245.2):c.619-5A>G - IFRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.634C>G r.(?) p.(Leu212Val) Unknown - benign g.112102071C>G g.112462016C>G IFRD1(NM_001007245.2):c.634C>G (p.L212V) - IFRD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.634C>G r.(?) p.(Leu212Val) Unknown - benign g.112102071C>G g.112462016C>G IFRD1(NM_001007245.2):c.634C>G (p.L212V) - IFRD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.828T>G r.(?) p.(Ser276=) Unknown - benign g.112102355T>G g.112462300T>G IFRD1(NM_001007245.2):c.828T>G (p.S276=), IFRD1(NM_001550.3):c.828T>G (p.S276=) - IFRD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.828T>G r.(?) p.(Ser276=) Unknown - benign g.112102355T>G g.112462300T>G IFRD1(NM_001007245.2):c.828T>G (p.S276=), IFRD1(NM_001550.3):c.828T>G (p.S276=) - IFRD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.985A>G r.(?) p.(Lys329Glu) Unknown - VUS g.112108114A>G g.112468059A>G IFRD1(NM_001007245.2):c.985A>G (p.K329E) - IFRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.985A>G r.(?) p.(Lys329Glu) Unknown - VUS g.112108114A>G g.112468059A>G IFRD1(NM_001007245.2):c.985A>G (p.K329E) - IFRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1047G>A r.(?) p.(Arg349=) Unknown - benign g.112112279G>A g.112472224G>A IFRD1(NM_001007245.2):c.1047G>A (p.R349=), IFRD1(NM_001550.3):c.1047G>A (p.R349=) - IFRD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1047G>A r.(?) p.(Arg349=) Unknown - benign g.112112279G>A g.112472224G>A IFRD1(NM_001007245.2):c.1047G>A (p.R349=), IFRD1(NM_001550.3):c.1047G>A (p.R349=) - IFRD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1171-12C>G r.(=) p.(=) Unknown - likely benign g.112112809C>G g.112472754C>G IFRD1(NM_001550.3):c.1171-12C>G - IFRD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1242G>A r.(?) p.(Thr414=) Unknown - benign g.112112892G>A g.112472837G>A IFRD1(NM_001007245.2):c.1242G>A (p.T414=), IFRD1(NM_001550.3):c.1242G>A (p.T414=) - IFRD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1242G>A r.(?) p.(Thr414=) Unknown - benign g.112112892G>A g.112472837G>A IFRD1(NM_001007245.2):c.1242G>A (p.T414=), IFRD1(NM_001550.3):c.1242G>A (p.T414=) - IFRD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1288T>G r.(?) p.(Phe430Val) Unknown - VUS g.112115506T>G g.112475451T>G IFRD1(NM_001007245.2):c.1288T>G (p.F430V) - IFRD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*84C>T r.(=) p.(=) Unknown - benign g.112115658C>T g.112475603C>T - - IFRD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend