Full data view for gene UBAP1

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

34 entries on 1 page. Showing entries 1 - 34.
Legend   How to query  

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.75C>A r.(?) p.(Tyr25*) Unknown - VUS g.34179087C>A - UBAP1(NM_001171201.1):c.75C>A (p.(Tyr25*)) - KIF24_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111G>T r.(?) p.(Arg37Ser) Unknown - likely benign g.34179123G>T - UBAP1(NM_016525.4):c.-123G>T (p.?) - KIF24_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.478_482dup r.(?) p.(Glu161Aspfs*8) Unknown - pathogenic (dominant) g.34241309_34241313dup g.34241311_34241315dup - - UBAP1_000008 - PubMed: Farazi Fard 2019 - - Germline yes - 4-generation family, 18 affected (14F, 4M) - - DNA SEQ, SEQ-NG - WES SPG Fam7 PubMed: Farazi Fard 2019 4-generation family, 18 affected (14F, 4M) F;M no Germany - - - - - 18 Johan den Dunnen
./. - c.487dup r.(?) p.(Asp163Glyfs*2) Unknown - pathogenic (dominant) g.34241318dup g.34241320dup - - UBAP1_000009 - PubMed: Farazi Fard 2019 - - Germline yes - 4-generation family, 4 affected (F, 3M) - - DNA SEQ, SEQ-NG - WES SPG Fam8 PubMed: Farazi Fard 2019 4-generation family, 4 affected (F, 3M) F;M no United States - - - - - 4 Johan den Dunnen
+/. - c.508A>T r.(?) p.(Lys170Ter) Unknown - pathogenic g.34241339A>T g.34241341A>T - - UBAP1_000011 - PubMed: Thomas 2022 - - De novo - - - - - DNA SEQ - - SPG Pat58 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
./. - c.553dup r.(?) p.(Leu185Profs*18) Unknown - pathogenic (dominant) g.34241384dup g.34241386dup - - UBAP1_000006 - PubMed: Farazi Fard 2019 - - De novo - - 2-generation family, 1 affected, unaffected parents - - DNA SEQ, SEQ-NG - WES SPG Fam4 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Spain - - - - - 1 Johan den Dunnen
./. - c.565C>T r.(?) p.(Gln189*) Unknown - pathogenic (dominant) g.34241396C>T g.34241398C>T - - UBAP1_000007 - PubMed: Farazi Fard 2019 - - De novo yes - 3-generation family, 2 affected, father/son - - DNA SEQ, SEQ-NG - WES SPG Fam5 PubMed: Farazi Fard 2019 3-generation family, 2 affected, father/son M no Bulgaria gypsy (Roma) - - - - 2 Johan den Dunnen
./. - c.565C>T r.(?) p.(Gln189*) Unknown - pathogenic (dominant) g.34241396C>T g.34241398C>T - - UBAP1_000007 - PubMed: Farazi Fard 2019 - - Germline yes - 4-generation family, 7 affected (5F, 2M) - - DNA SEQ, SEQ-NG - WES SPG Fam6 PubMed: Farazi Fard 2019 4-generation family, 7 affected (5F, 2M) F;M no Bulgaria gypsy (Roma) - - - - 7 Johan den Dunnen
./. - c.574del r.(?) p.(Ser192Alafs*23) Unknown - pathogenic (dominant) g.34241405del g.34241407del - - UBAP1_000005 mother not available PubMed: Farazi Fard 2019 - - De novo - - 2-generation family, 1 affected, unaffected parents - - DNA SEQ, SEQ-NG - WES SPG Fam3 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Canada - - - - - 1 Johan den Dunnen
./. - c.618_619del r.(?) p.(Lys207Serfs*15) Unknown - pathogenic (dominant) g.34241449_34241450del g.34241451_34241452del - - UBAP1_000004 - PubMed: Farazi Fard 2019 - - De novo - - 2-generation family, 1 affected, unaffected parents - - DNA SEQ, SEQ-NG - WES SPG Fam2 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Germany - - - - - 1 Johan den Dunnen
./. - c.618_619del r.(?) p.(Lys207Serfs*15) Unknown - pathogenic (dominant) g.34241449_34241450del g.34241451_34241452del - - UBAP1_000004 - PubMed: Farazi Fard 2019 - - De novo - - 2-generation family, 1 affected, unaffected parents - - DNA SEQ, SEQ-NG - WES SPG Fam10 PubMed: Farazi Fard 2019 2-generation family, 1 affected, unaffected parents F no Germany;Poland - - - - - 1 Johan den Dunnen
+/. - c.618_619del r.(?) p.(Lys207Serfs*15) Unknown - pathogenic g.34241449_34241450del - UBAP1(NM_001171203.3):c.426_427delGA (p.K143Sfs*15) - UBAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.628_629insTGAG r.(?) p.(Ser210Metfs*14) Unknown - pathogenic (dominant) g.34241459_34241460insTGAG g.34241461_34241462insTGAG - - UBAP1_000003 - PubMed: Farazi Fard 2019 - - Germline yes - 6-generation family, 31 affected (13F, 18M) - - DNA SEQ, SEQ-NG - WES SPG Fam1 PubMed: Farazi Fard 2019 6-generation family, 31 affected (13F, 18M) F;M no Iran - - - - - 31 Johan den Dunnen
?/. - c.770C>T r.(?) p.(Ala257Val) Unknown - VUS g.34241601C>T - UBAP1(NM_001171203.2):c.578C>T (p.A193V) - KIF24_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.785A>G r.(?) p.(Asn262Ser) Unknown - likely benign g.34241616A>G - UBAP1(NM_001171203.2):c.593A>G (p.N198S) - KIF24_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(Leu318=) Unknown - likely benign g.34241785C>T - UBAP1(NM_001171201.1):c.954C>T (p.L318=) - KIF24_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008C>T r.(?) p.(Asp336=) Unknown - likely benign g.34241839C>T - UBAP1(NM_001171201.1):c.1008C>T (p.D336=) - KIF24_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144A>T r.(?) p.(Thr382Ser) Unknown - likely benign g.34241975A>T - UBAP1(NM_001171203.2):c.952A>T (p.T318S) - KIF24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188G>A r.(?) p.(Met396Ile) Unknown - likely benign g.34242019G>A - UBAP1(NM_016525.4):c.996G>A (p.(Met332Ile)) - KIF24_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1263T>A r.(?) p.(Asn421Lys) Unknown - likely benign g.34242094T>A g.34242096T>A UBAP1(NM_001171203.3):c.1071T>A (p.N357K) - UBAP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1283del r.(?) p.(Pro428Leufs*50) Unknown - pathogenic (dominant) g.34249784del g.34249786del - - UBAP1_000010 - PubMed: Farazi Fard 2019 - - De novo yes - 3-generation family, 2 affected, father/daughter - - DNA SEQ, SEQ-NG - WES SPG Fam9 PubMed: Farazi Fard 2019 3-generation family, 2 affected, father/daughter F;M no Germany;Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
?/. - c.1457A>G r.(?) p.(Gln486Arg) Unknown - VUS g.34249958A>G - UBAP1(NM_016525.4):c.1265A>G (p.(Gln422Arg)) - KIF24_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458+6C>T r.(=) p.(=) Unknown - likely benign g.34249965C>T g.34249967C>T UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T - UBAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458+6C>T r.(=) p.(=) Unknown - likely benign g.34249965C>T - UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T - UBAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458+6C>T r.(=) p.(=) Unknown - likely benign g.34249965C>T - UBAP1(NM_001171201.1):c.1458+6C>T, UBAP1(NM_001171203.2):c.1266+6C>T, UBAP1(NM_001171203.3):c.1266+6C>T - UBAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480C>T r.(?) p.(His494Tyr) Unknown - likely benign g.34250677C>T - - - KIF24_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3533T>C r.(=) p.(=) Unknown - likely benign g.34255063T>C - KIF24(NM_194313.2):c.3966+7A>G (p.(=)) - KIF24_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4546_*4547del r.(=) p.(=) Unknown - VUS g.34256076_34256077del - KIF24(NM_194313.4):c.3530_3531del (p.(Glu1177Glyfs*36)) - KIF24_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5703C>T r.(=) p.(=) Unknown - likely benign g.34257233C>T - KIF24(NM_194313.2):c.2372G>A (p.(Arg791His)) - KIF24_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8124T>C r.(=) p.(=) Unknown - VUS g.34259654T>C - KIF24(NM_194313.4):c.1565A>G (p.(Asn522Ser)) - KIF24_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17813A>T r.(=) p.(=) Unknown - VUS g.34269343A>T - KIF24(NM_194313.4):c.1355T>A (p.(Leu452*)) - KIF24_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*54749C>T r.(=) p.(=) Unknown - VUS g.34306279C>T - KIF24(NM_194313.4):c.784G>A (p.(Ala262Thr)) - KIF24_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*54859_*54860del r.(=) p.(=) Unknown - VUS g.34306389_34306390del - KIF24(NM_194313.4):c.675_676del (p.(Arg225Serfs*19)) - KIF24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*54908_*54911del r.(=) p.(=) Unknown - VUS g.34306438_34306441del - KIF24(NM_194313.4):c.625_628del (p.(Gln209Thrfs*26)) - KIF24_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.