Unique variants in the CTPS2 gene

Information The variants shown are described using the NM_019857.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     
?/. 2 - c.-39-80del r.(=) p.(=) - VUS g.16721145del g.16703022del - - CTPS2_000033 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-39-65A>G r.(=) p.(=) - VUS g.16721129T>C g.16703006T>C - - CTPS2_000005 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.75G>A r.(?) p.(Thr25=) - likely benign g.16720951C>T - CTPS2(NM_001144002.1):c.75G>A (p.T25=) - CTPS2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.167-137C>T r.(=) p.(=) - VUS g.16717353G>A g.16699230G>A - - CTPS2_000003 - - - - Germline - - - - - Yu Sun
?/. 1 3 c.308G>A r.(?) p.(Arg103His) - VUS g.16717075C>T g.16698952C>T R103H - CTPS2_000041 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 2 - c.338-223_338-221del r.(=) p.(=) - VUS g.16716689_16716691del g.16698566_16698568del - - CTPS2_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.338-220_338-218del r.(=) p.(=) - VUS g.16716679_16716681del g.16698556_16698558del - - CTPS2_000031 - - - - Germline - - - - - Yu Sun
?/. 2 - c.438+225G>A r.(=) p.(=) - VUS g.16716134C>T g.16698011C>T - - CTPS2_000021 - - - - Germline - - - - - Yu Sun
?/. 2 - c.439-190G>A r.(=) p.(=) - VUS g.16711800C>T g.16693677C>T - - CTPS2_000018 - - - - Germline - - - - - Yu Sun
?/. 1 - c.639+7T>C r.(=) p.(=) - VUS g.16711257A>G g.16693134A>G CTPS2(NM_001144002.1):c.639+7T>C (p.(=)) - CTPS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.639+61_639+62del r.(=) p.(=) - VUS g.16711203_16711204del g.16693080_16693081del - - CTPS2_000017 - - - - Germline - - - - - Yu Sun
?/. 1 - c.639+79del r.(=) p.(=) - VUS g.16711202del g.16693079del - - CTPS2_000030 - - - - Germline - - - - - Yu Sun
?/. 1 - c.639+81del r.(=) p.(=) - VUS g.16711184del g.16693061del - - CTPS2_000035 - - - - Germline - - - - - Yu Sun
?/. 2 - c.720+37C>T r.(=) p.(=) - VUS g.16709626G>A g.16691503G>A - - CTPS2_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.734A>G r.(?) p.(His245Arg) - VUS g.16707711T>C - CTPS2(NM_001144002.1):c.734A>G (p.H245R) - CTPS2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1039G>A r.(?) p.(Glu347Lys) - likely benign g.16696540C>T g.16678417C>T CTPS2(NM_001144002.1):c.1039G>A (p.(Glu347Lys)) - CTPS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1189+7C>G r.(=) p.(=) - likely benign g.16688696G>C g.16670573G>C CTPS2(NM_001144002.1):c.1189+7C>G (p.(=)) - CTPS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1210C>A r.(?) p.(Leu404Ile) - likely benign g.16685827G>T g.16667704G>T CTPS2(NM_001144002.1):c.1210C>A (p.L404I) - CTPS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1296+246A>C r.(=) p.(=) - VUS g.16685391T>G g.16667268T>G - - CTPS2_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1296+13379C>T r.(=) p.(=) - VUS g.16672258G>A g.16654135G>A - - CTPS2_000029 - - - - Germline - - - - - Yu Sun
-?/. 1 17 c.1599G>A r.(?) p.(=) - likely benign g.16627756C>T g.16609633C>T P533P - CTPS2_000040 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 2 - c.*41+82C>T r.(=) p.(=) - VUS g.16608793G>A g.16590670G>A - - CTPS2_000001 - - - - Germline - - - - - Yu Sun
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