Full data view for gene YIPF3

Information The variants shown are described using the NM_015388.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-4453C>T r.(?) p.(=) Unknown - likely benign g.43488998G>A g.43521260G>A POLR1C(NM_203290.3):c.1001G>A (p.R334Q) - POLR1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4370G>A r.(?) p.(=) Unknown - likely benign g.43488915C>T - POLR1C(NM_203290.4):c.923-5C>T - POLR1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4248T>C r.(?) p.(=) Unknown - VUS g.43488793A>G - POLR1C(NM_203290.2):c.922+7A>G (p.?) - POLR1C_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4184G>A r.(?) p.(=) Unknown - VUS g.43488729C>T - POLR1C(NM_001363658.1):c.865C>T (p.R289W) - POLR1C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4155C>T r.(?) p.(=) Unknown - pathogenic g.43488700G>A - POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q) - POLR1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4155C>T r.(?) p.(=) Unknown - likely pathogenic g.43488700G>A - POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q) - POLR1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3970T>C r.(?) p.(=) Unknown - VUS g.43488515A>G g.43520777A>G POLR1C(NM_203290.3):c.805+3A>G - POLR1C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3809G>A r.(?) p.(=) Unknown - benign g.43488354C>T g.43520616C>T - - POLR1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3599T>C r.(?) p.(=) Unknown - benign g.43488144A>G g.43520406A>G POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V) - POLR1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3599T>C r.(?) p.(=) Unknown - likely benign g.43488144A>G g.43520406A>G POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V) - POLR1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3461G>A r.(?) p.(=) Unknown - likely benign g.43488006C>T g.43520268C>T POLR1C(NM_203290.2):c.503-7C>T (p.(=)) - POLR1C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3366C>T r.(?) p.(=) Unknown - likely benign g.43487911G>A - POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met)) - POLR1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3366C>T r.(?) p.(=) Unknown - likely benign g.43487911G>A - POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met)) - POLR1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3297G>A r.(?) p.(=) Unknown - VUS g.43487842C>T g.43520104C>T POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C) - POLR1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3297G>A r.(?) p.(=) Unknown - VUS g.43487842C>T - POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C) - POLR1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3271C>T r.(?) p.(=) Unknown - VUS g.43487816G>A g.43520078G>A POLR1C(NM_203290.3):c.395G>A (p.G132D) - POLR1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2969G>A r.(?) p.(=) Unknown - VUS g.43487514C>T g.43519776C>T POLR1C(NM_203290.2):c.320C>T (p.(Ala107Val)) - POLR1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2908T>C r.(?) p.(=) Unknown - likely benign g.43487453A>G - POLR1C(NM_203290.2):c.259A>G (p.(Met87Val)) - POLR1C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2577T>C r.(?) p.(=) Unknown - VUS g.43487122A>G - POLR1C(NM_001363658.1):c.193A>G (p.M65V) - POLR1C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-560C>T r.(?) p.(=) Unknown - VUS g.43485105G>A - POLR1C(NM_203290.4):c.131G>A (p.(Arg44His)) - POLR1C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-545G>A r.(?) p.(=) Unknown - likely benign g.43485090C>T g.43517352C>T POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V) - POLR1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-545G>A r.(?) p.(=) Unknown - likely benign g.43485090C>T - POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V) - POLR1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-376C>T r.(?) p.(=) Unknown - VUS g.43484921G>A - POLR1C(NM_001363658.1):c.69+5G>A - POLR1C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-370T>C r.(?) p.(=) Unknown - VUS g.43484915A>G - POLR1C(NM_203290.2):c.68A>G (p.(Asn23Ser)) - POLR1C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-367C>T r.(?) p.(=) Unknown - VUS g.43484912G>A g.43517174G>A POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H) - POLR1C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-367C>T r.(?) p.(=) Unknown - likely benign g.43484912G>A - POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H) - POLR1C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-333G>A r.(?) p.(=) Unknown - VUS g.43484878C>T g.43517140C>T POLR1C(NM_001363658.1):c.31C>T (p.R11W) - POLR1C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-324C>T r.(?) p.(=) Unknown - VUS g.43484869G>A g.43517131G>A - - POLR1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-310G>A r.(?) p.(=) Unknown - likely benign g.43484855C>T g.43517117C>T POLR1C(NM_203290.3):c.8C>T (p.A3V) - POLR1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-307G>C r.(?) p.(=) Unknown - VUS g.43484852C>G g.43517114C>G POLR1C(NM_203290.2):c.5C>G (p.(Ala2Gly)) - POLR1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194_196del r.(?) p.(Asp65del) Unknown - VUS g.43483721_43483723del g.43515983_43515985del YIPF3(NM_015388.3):c.194_196del (p.(Asp65del)) - YIPF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391A>G r.(?) p.(Ser131Gly) Unknown - VUS g.43483337T>C g.43515599T>C YIPF3(NM_015388.3):c.391A>G (p.(Ser131Gly)) - POLR1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.536G>A r.(?) p.(Arg179Gln) Unknown - VUS g.43480937C>T g.43513199C>T YIPF3(NM_015388.3):c.536G>A (p.(Arg179Gln)) - YIPF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.805G>A r.(?) p.(Val269Met) Unknown - VUS g.43480277C>T g.43512539C>T YIPF3(NM_015388.3):c.805G>A (p.(Val269Met)) - YIPF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901G>C r.(?) p.(Glu301Gln) Unknown - likely benign g.43480181C>G g.43512443C>G YIPF3(NM_015388.3):c.901G>C (p.(Glu301Gln)) - YIPF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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