Unique variants in the KPTN gene

Information The variants shown are described using the NM_007059.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.127G>T r.(?) p.(Ala43Ser) - likely benign g.47987291C>A g.47484034C>A - - KPTN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.188G>A r.(?) p.(Arg63Gln) - VUS g.47987230C>T g.47483973C>T KPTN(NM_007059.3):c.188G>A (p.R63Q) - KPTN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.664C>T r.(?) p.(Gln222Ter) - pathogenic g.47983600G>A - KPTN(NM_007059.4):c.664C>T (p.Q222*) - KPTN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 7 c.665dup r.(?) p.(Ser223GlufsTer50) - likely pathogenic g.47983599dup g.47480342dup - - KPTN_000001 - Pajusalu et al., submitted - - Germline yes - - - - Sander Pajusalu
?/. 1 - c.674A>G r.(?) p.(Tyr225Cys) - VUS g.47983590T>C g.47480333T>C KPTN(NM_007059.3):c.674A>G (p.Y225C) - KPTN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.685G>T r.(?) p.(Ala229Ser) - VUS g.47983579C>A g.47480322C>A KPTN(NM_007059.2):c.685G>T (p.(Ala229Ser)) - KPTN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/., ?/. 4 8 c.714_731dup r.(?) p.(Glu240_Leu245dup), p.(Met241_Gln246dup) - likely pathogenic, pathogenic, VUS g.47983179_47983196dup g.47479922_47479939dup 1 more item - KPTN_000003, KPTN_000005 VKGL data sharing initiative Nederland PubMed: Baple 2014, Journal: Baple 2014, OMIM:var0002 - rs587777148 CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 2 8 c.776C>A r.(?) p.(Ser259*) - pathogenic g.47983131G>T g.47479874G>T - - KPTN_000002 homozygosity mapping, whole exome sequencing PubMed: Baple 2014, Journal: Baple 2014, OMIM:var0001 - rs374298314 Germline yes - - - - Johan den Dunnen
?/. 1 - c.823G>A r.(?) p.(Val275Met) - VUS g.47981003C>T g.47477746C>T KPTN(NM_007059.3):c.823G>A (p.V275M) - KPTN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.862dup r.(?) p.(Arg288ProfsTer9) - likely pathogenic g.47980964dup g.47477707dup - - KPTN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.877C>T r.(?) p.(Arg293Trp) - likely benign g.47980182G>A g.47476925G>A KPTN(NM_007059.3):c.877C>T (p.R293W) - KPTN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.907G>A r.(?) p.(Gly303Ser) - likely benign g.47980152C>T g.47476895C>T KPTN(NM_007059.3):c.907G>A (p.G303S) - KPTN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.985G>C r.(?) p.(Ala329Pro) - VUS g.47980074C>G g.47476817C>G - - KPTN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1035G>A r.(?) p.(Ser345=) - likely benign g.47979936C>T g.47476679C>T KPTN(NM_007059.3):c.1035G>A (p.S345=) - KPTN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1125C>T r.(?) p.(Thr375=) - likely benign g.47979846G>A g.47476589G>A KPTN(NM_007059.3):c.1125C>T (p.T375=) - KPTN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1168G>C r.(?) p.(Val390Leu) - likely benign g.47979803C>G - KPTN(NM_007059.3):c.1168G>C (p.V390L) - KPTN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1249C>T r.(?) p.(Arg417Cys) - likely benign, VUS g.47978735G>A g.47475478G>A KPTN(NM_007059.3):c.1249C>T (p.R417C), KPTN(NM_007059.4):c.1249C>T (p.R417C) - KPTN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1268A>G r.(?) p.(Glu423Gly) - likely benign g.47978716T>C g.47475459T>C KPTN(NM_007059.2):c.1268A>G (p.(Glu423Gly)) - KPTN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query