Full data view for gene KIAA1279

Information The variants shown are described using the NM_015634.3 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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

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Technique     

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Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
?/. - c.-98_-96delinsAGT r.(?) p.(=) Unknown - VUS g.70748491_70748493delinsAGT g.68988735_68988737delinsAGT KIAA1279(NM_015634.3):c.-98_-96delGCAinsAGT - KIAA1279_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29G>T r.(?) p.(Cys10Phe) Unknown - VUS g.70748617G>T - KIF1BP(NM_015634.3):c.29G>T (p.C10F) - DDX21_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68A>G r.(?) p.(Glu23Gly) Unknown - VUS g.70748656A>G g.68988900A>G KIAA1279(NM_015634.3):c.68A>G (p.E23G), KIF1BP(NM_015634.3):c.68A>G (p.E23G) - KIAA1279_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78A>G r.(?) p.(Lys26=) Unknown - benign g.70748666A>G g.68988910A>G KIF1BP(NM_015634.3):c.78A>G (p.K26=) - KIAA1279_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196G>A r.(?) p.(Gly66Ser) Unknown - benign g.70748784G>A g.68989028G>A KIAA1279(NM_015634.3):c.196G>A (p.G66S), KIFBP(NM_015634.4):c.196G>A (p.G66S) - KIAA1279_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196G>A r.(?) p.(Gly66Ser) Unknown - benign g.70748784G>A g.68989028G>A KIAA1279(NM_015634.3):c.196G>A (p.G66S), KIFBP(NM_015634.4):c.196G>A (p.G66S) - KIAA1279_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268C>T r.(?) p.(Arg90Ter) Unknown - pathogenic g.70748856C>T g.68989100C>T KIAA1279(NM_015634.3):c.268C>T (p.R90*) - KIAA1279_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>A r.(?) p.(Glu115Lys) Unknown - VUS g.70748931G>A g.68989175G>A KIAA1279(NM_015634.3):c.343G>A (p.E115K) - KIAA1279_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419A>G r.(?) p.(Gln140Arg) Unknown - VUS g.70749007A>G g.68989251A>G KIF1BP(NM_015634.3):c.419A>G (p.Q140R) - DDX21_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518T>C r.(?) p.(Met173Thr) Unknown - benign g.70760271T>C g.69000515T>C KIAA1279(NM_015634.3):c.518T>C (p.M173T, p.(Met173Thr)) - KIAA1279_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518T>C r.(?) p.(Met173Thr) Unknown - likely benign g.70760271T>C g.69000515T>C KIAA1279(NM_015634.3):c.518T>C (p.M173T, p.(Met173Thr)) - KIAA1279_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518T>C r.(?) p.(Met173Thr) Parent #1 - benign g.70760271T>C g.69000515T>C - - KIAA1279_000008 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62625033 Germline - 27/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 27 Mohammed Faruq
-/. - c.606-45del r.(=) p.(=) Unknown - benign g.70765443del g.69005687del KIAA1279(NM_015634.3):c.606-45delA - KIAA1279_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679G>A r.(?) p.(Ala227Thr) Unknown - VUS g.70765561G>A g.69005805G>A KIFBP(NM_015634.4):c.679G>A (p.A227T) - KIAA1279_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.718G>T r.(?) p.(Glu240Ter) Unknown - pathogenic g.70765600G>T g.69005844G>T KIAA1279(NM_015634.3):c.718G>T (p.E240*) - KIAA1279_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.789G>A r.(?) p.(Lys263=) Unknown - pathogenic g.70765671G>A - KIF1BP(NM_015634.4):c.789G>A (p.K263=), KIFBP(NM_015634.4):c.789G>A (p.K263=) - KIAA1279_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904C>G r.(?) p.(Leu302Val) Unknown - VUS g.70770685C>G g.69010929C>G KIAA1279(NM_015634.3):c.904C>G (p.L302V) - KIAA1279_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991G>A r.(?) p.(Asp331Asn) Unknown - VUS g.70775297G>A g.69015541G>A - - KIAA1279_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1023G>A r.(?) p.(Gln341=) Unknown - benign g.70775329G>A g.69015573G>A KIF1BP(NM_015634.3):c.1023G>A (p.Q341=) - KIAA1279_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259T>C r.(?) p.(Ile420Thr) Unknown - VUS g.70775565T>C g.69015809T>C KIAA1279(NM_015634.3):c.1259T>C (p.I420T) - KIAA1279_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1279A>G r.(?) p.(Ser427Gly) Unknown - VUS g.70775585A>G g.69015829A>G KIAA1279(NM_015634.3):c.1279A>G (p.S427G) - KIAA1279_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282G>T r.(?) p.(Ala428Ser) Unknown - VUS g.70775588G>T g.69015832G>T KIF1BP(NM_015634.3):c.1282G>T (p.A428S) - KIAA1279_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286del r.(?) p.(Leu429ArgfsTer23) Unknown - VUS g.70775592del g.69015836del KIAA1279(NM_015634.3):c.1286del (p.(Leu429ArgfsTer23)) - KIAA1279_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1303T>G r.(?) p.(Phe435Val) Unknown - VUS g.70775609T>G - KIF1BP(NM_015634.4):c.1303T>G (p.(Phe435Val)) - KIAA1279_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1397dup r.(?) p.(Tyr466*) Both (homozygous) - pathogenic (recessive) g.70775703dup g.69015947dup 1397dupA - KIAA1279_000001 - PubMed: Bruno 2011, Journal: Bruno 2011 - - Germline - - - - - DNA SEQ - - GOSHS Pat5 PubMed: Bruno 2011, Journal: Bruno 2011 - - - Australia - - - - - 1 Damien Bruno
-?/. - c.1399C>T r.(?) p.(Leu467=) Unknown - likely benign g.70775705C>T g.69015949C>T KIF1BP(NM_015634.3):c.1399C>T (p.L467=) - KIAA1279_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1419C>G r.(?) p.(Ile473Met) Unknown - VUS g.70775725C>G g.69015969C>G KIAA1279(NM_015634.3):c.1419C>G (p.(Ile473Met)), KIF1BP(NM_015634.3):c.1419C>G (p.I473M) - KIAA1279_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1419C>G r.(?) p.(Ile473Met) Unknown - VUS g.70775725C>G - KIAA1279(NM_015634.3):c.1419C>G (p.(Ile473Met)), KIF1BP(NM_015634.3):c.1419C>G (p.I473M) - KIAA1279_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1420C>A r.(?) p.(Gln474Lys) Unknown - VUS g.70775726C>A g.69015970C>A KIAA1279(NM_015634.3):c.1420C>A (p.(Gln474Lys)) - KIAA1279_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451T>C r.(?) p.(Met484Thr) Unknown - VUS g.70775757T>C - KIF1BP(NM_015634.4):c.1451T>C (p.(Met484Thr)) - KIAA1279_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1524T>A r.(?) p.(Asn508Lys) Unknown - VUS g.70775830T>A g.69016074T>A KIAA1279(NM_015634.3):c.1524T>A (p.(Asn508Lys)) - KIAA1279_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1653C>T r.(?) p.(Ala551=) Unknown - benign g.70775959C>T g.69016203C>T KIF1BP(NM_015634.3):c.1653C>T (p.A551=), KIFBP(NM_015634.4):c.1653C>T (p.A551=) - KIAA1279_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1653C>T r.(?) p.(Ala551=) Unknown - benign g.70775959C>T g.69016203C>T KIF1BP(NM_015634.3):c.1653C>T (p.A551=), KIFBP(NM_015634.4):c.1653C>T (p.A551=) - KIAA1279_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694_1695del r.(?) p.(Glu565Alafs*16) Unknown - VUS g.70776000_70776001del - KIF1BP(NM_015634.4):c.1694_1695del (p.(Glu565Alafs*16)) - KIAA1279_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1761T>C r.(?) p.(Pro587=) Unknown - likely benign g.70776067T>C g.69016311T>C KIF1BP(NM_015634.3):c.1761T>C (p.P587=) - KIAA1279_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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