All variants in the ACTRT1 gene

Information The variants shown are described using the NM_138289.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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     
?/. - c.110C>A r.(?) p.(Ser37Tyr) - VUS g.127186076G>T g.128052097G>T ACTRT1(NM_138289.3):c.110C>A (p.(Ser37Tyr)) - ACTRT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.169G>A r.(?) p.(Val57Met) - VUS g.127186017C>T g.128052038C>T ACTRT1(NM_138289.3):c.169G>A (p.(Val57Met)) - ACTRT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.308_309del r.(?) p.(Gln103ProfsTer13) - VUS g.127185877_127185878del g.128051898_128051899del ACTRT1(NM_138289.3):c.308_309delAA (p.Q103Pfs*13) - ACTRT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.353T>G r.(?) p.(Ile118Ser) - likely benign g.127185833A>C g.128051854A>C ACTRT1(NM_138289.3):c.353T>G (p.I118S) - ACTRT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.529G>A r.(?) p.(Ala177Thr) - VUS g.127185657C>T g.128051678C>T - - ACTRT1_000008 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - Lucy Raymond
?/. - c.547dup r.(?) p.(Met183AsnfsTer17) - VUS g.127185639dup g.128051660dup ACTRT1(NM_138289.3):c.547dupA (p.(Met183AsnfsTer17)), ACTRT1(NM_138289.3):c.547dupA (p.M183Nfs*17) - ACTRT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.547dup r.(?) p.(Met183AsnfsTer17) - VUS g.127185639dup - ACTRT1(NM_138289.3):c.547dupA (p.(Met183AsnfsTer17)), ACTRT1(NM_138289.3):c.547dupA (p.M183Nfs*17) - ACTRT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.716G>A r.(?) p.(Gly239Glu) - likely benign g.127185470C>T g.128051491C>T ACTRT1(NM_138289.3):c.716G>A (p.(Gly239Glu)) - ACTRT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.731C>T r.(?) p.(Pro244Leu) - VUS g.127185455G>A g.128051476G>A ACTRT1(NM_138289.3):c.731C>T (p.(Pro244Leu)) - ACTRT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.737G>A r.(?) p.(Gly246Glu) - VUS g.127185449C>T g.128051470C>T ACTRT1(NM_138289.3):c.737G>A (p.G246E) - ACTRT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.954G>T r.(=) p.(=) - likely benign g.127185232C>A g.128051253C>A V318V - ACTRT1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.979C>T r.(?) p.(Pro327Ser) - likely benign g.127185207G>A - ACTRT1(NM_138289.3):c.979C>T (p.P327S) - ACTRT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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