Unique variants in the CXorf1 gene

Information The variants shown are described using the NM_004709.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-5227G>T r.(?) p.(=) - VUS g.144903969G>T g.145822451G>T SLITRK2(NM_032539.4):c.26G>T (p.(Ser9Ile)) - SLITRK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-5210G>A r.(?) p.(=) - VUS g.144903986G>A g.145822468G>A SLITRK2(NM_032539.4):c.43G>A (p.G15R) - SLITRK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-5102T>C r.(?) p.(=) - VUS g.144904094T>C g.145822576T>C SLITRK2(NM_032539.4):c.151T>C (p.F51L) - CXorf1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-5032T>C r.(?) p.(=) - VUS g.144904164T>C g.145822646T>C - - SLITRK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-4812T>C r.(?) p.(=) - likely benign g.144904384T>C g.145822866T>C SLITRK2(NM_032539.4):c.441T>C (p.S147=) - CXorf1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4629C>T r.(?) p.(=) - likely benign g.144904567C>T g.145823049C>T SLITRK2(NM_032539.4):c.624C>T (p.I208=) - CXorf1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-4383T>G r.(?) p.(=) - likely benign, VUS g.144904813T>G g.145823295T>G SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K) - SLITRK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.-4322C>G r.(?) p.(=) - VUS g.144904874C>G g.145823356C>G - - SLITRK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3802G>A r.(?) p.(=) - VUS g.144905394G>A g.145823876G>A SLITRK2(NM_032539.4):c.1451G>A (p.R484Q) - CXorf1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3785A>G r.(?) p.(=) - likely benign g.144905411A>G g.145823893A>G SLITRK2(NM_032539.4):c.1468A>G (p.I490V) - CXorf1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3717A>G r.(?) p.(=) - likely benign g.144905479A>G g.145823961A>G SLITRK2(NM_032539.4):c.1536A>G (p.K512=) - CXorf1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-3546A>C r.(?) p.(=) - likely benign g.144905650A>C - SLITRK2(NM_032539.4):c.1707A>C (p.L569=) - CXorf1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3449C>T r.(?) p.(=) - VUS g.144905747C>T g.145824229C>T SLITRK2(NM_001144003.2):c.1804C>T (p.(Leu602Phe)) - SLITRK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-3149A>G r.(?) p.(=) - VUS g.144906047A>G g.145824529A>G - - SLITRK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-3098A>G r.(?) p.(=) - likely benign g.144906098A>G g.145824580A>G - - CXorf1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-2753G>A r.(?) p.(=) - likely benign g.144906443G>A g.145824925G>A - - CXorf1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.264G>T r.(?) p.(Met88Ile) - VUS g.144909459G>T g.145827941G>T TMEM257(NM_004709.2):c.264G>T (p.(Met88Ile)) - CXorf1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*611G>A r.(=) p.(=) - VUS g.144910142G>A g.145828624G>A - - CXorf1_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1405C>T r.(=) p.(=) - VUS g.144910936C>T g.145829418C>T - - CXorf1_000001 - - - - Germline - - - - - Yu Sun
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