Full data view for gene GTF2IRD1

Information The variants shown are described using the NM_016328.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.77G>A r.(?) p.(Arg26His) Unknown - VUS g.73922487G>A - GTF2IRD1(NM_016328.3):c.77G>A (p.R26H) - GTF2IRD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>A r.(?) p.(Gly208Arg) Unknown - VUS g.73933755G>A - GTF2IRD1(NM_016328.3):c.622G>A (p.G208R) - GTF2IRD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.782C>T r.(?) p.(Ala261Val) Unknown - VUS g.73933915C>T - GTF2IRD1(NM_016328.3):c.782C>T (p.A261V) - GTF2IRD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973C>T r.(?) p.(Arg325Cys) Unknown - VUS g.73935594C>T - GTF2IRD1(NM_005685.4):c.973C>T (p.(Arg325Cys)) - GTF2IRD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991G>A r.(?) p.(Val331Ile) Unknown - VUS g.73935612G>A - GTF2IRD1(NM_016328.3):c.991G>A (p.V331I) - GTF2IRD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1207A>G r.(?) p.(Thr403Ala) Unknown - likely benign g.73944180A>G - GTF2IRD1(NM_005685.4):c.1207A>G (p.(Thr403Ala)) - GTF2IRD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1966+10G>A r.(=) p.(=) Unknown - likely benign g.73969563G>A - GTF2IRD1(NM_005685.4):c.1966+10G>A - GTF2IRD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2041G>A r.(?) p.(Glu681Lys) Unknown - likely benign g.73969797G>A - GTF2IRD1(NM_005685.4):c.1996G>A (p.(Glu666Lys)) - GTF2IRD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2095A>G r.(?) p.(Ile699Val) Unknown - VUS g.73971995A>G - GTF2IRD1(NM_016328.3):c.2095A>G (p.I699V) - GTF2IRD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628C>G r.(?) p.(Asn876Lys) Unknown - likely benign g.74005338C>G - GTF2IRD1(NM_005685.4):c.2583C>G (p.(Asn861Lys)) - GTF2IRD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2693C>A r.(?) p.(Pro898His) Unknown - VUS g.74015389C>A - GTF2IRD1(NM_016328.3):c.2693C>A (p.P898H) - GTF2IRD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2819C>T r.(?) p.(Pro940Leu) Unknown - likely benign g.74016699C>T - GTF2IRD1(NM_005685.3):c.2774C>T (p.(Pro925Leu)) - GTF2IRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2842G>A r.(?) p.(Gly948Ser) Unknown - VUS g.74016722G>A - GTF2IRD1(NM_005685.4):c.2797G>A (p.(Gly933Ser)) - GTF2IRD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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