Unique variants in the GSPT2 gene

Information The variants shown are described using the NM_018094.4 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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 _1_ c.-33592_*3692dup r.(=) p.(=) - VUS g.51453131_51492301dup g.51710035_51749205dup hg18 chrX:g.51469871_51509041dup - GSPT2_000004 not in 181 controls PubMed: Wibley 2010 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.68C>T r.(?) p.(Pro23Leu) - likely benign g.51486790C>T g.51743694C>T GSPT2(NM_018094.4):c.68C>T (p.(Pro23Leu)) - GSPT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.242C>A r.(?) p.(Thr81Asn) - VUS g.51486964C>A g.51743868C>A GSPT2(NM_018094.4):c.242C>A (p.(Thr81Asn)) - GSPT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 1 c.793A>G r.(?) p.(Lys265Glu) - VUS g.51487515A>G g.51744419A>G K265E - GSPT2_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
./. 1 - c.868G>A r.(?) p.(Gly290Ser) - pathogenic g.51487590G>A g.51744494G>A - - GSPT2_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.872A>G r.(?) p.(His291Arg) - VUS g.51487594A>G g.51744498A>G GSPT2(NM_018094.5):c.872A>G (p.H291R) - GSPT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 1 c.919T>C r.(?) p.(=) - likely benign g.51487641T>C g.51744545T>C L307L - GSPT2_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+?/. 1 1 c.1021G>A r.(?) p.(Val341Ile) - likely pathogenic g.51487743G>A g.51744647G>A - - GSPT2_000006 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - Johan den Dunnen
?/. 1 1 c.1186G>A r.(?) p.(Ala396Thr) - VUS g.51487908G>A g.51744812G>A A396T - GSPT2_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1299G>A r.(?) p.(Leu433=) - likely benign g.51488021G>A g.51744925G>A GSPT2(NM_018094.4):c.1299G>A (p.L433=) - GSPT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1880A>G r.(?) p.(Lys627Arg) - likely benign g.51488602A>G g.51745506A>G GSPT2(NM_018094.4):c.1880A>G (p.(Lys627Arg)) - GSPT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query