All variants in the HTATSF1 gene

Information The variants shown are described using the NM_014500.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.11C>A r.(?) p.(Thr4Asn) - VUS g.135579854C>A g.136497695C>A HTATSF1(NM_001163280.1):c.11C>A (p.(Thr4Asn)) - HTATSF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.98A>T r.(?) p.(Asp33Val) - VUS g.135579941A>T - HTATSF1(NM_001163280.1):c.98A>T (p.D33V) - HTATSF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.238G>T r.(?) p.(Asp80Tyr) - VUS g.135581808G>T - HTATSF1(NM_001163280.1):c.238G>T (p.D80Y) - HTATSF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.251G>A r.(?) p.(Ser84Asn) - VUS g.135581821G>A g.136499662G>A S84N - HTATSF1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.761G>C r.(?) p.(Arg254Pro) - likely benign g.135586549G>C g.136504390G>C HTATSF1(NM_001163280.1):c.761G>C (p.R254P) - HTATSF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1014T>A r.(?) p.(Gly338=) - likely benign g.135592330T>A - HTATSF1(NM_001163280.1):c.1014T>A (p.G338=) - HTATSF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1202A>G r.(?) p.(His401Arg) - VUS g.135593106A>G g.136510947A>G HTATSF1(NM_001163280.1):c.1202A>G (p.H401R) - HTATSF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1433G>C r.(?) p.(Gly478Ala) - VUS g.135593337G>C g.136511178G>C - - HTATSF1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1433G>C r.(?) p.(Gly478Ala) - VUS g.135593337G>C g.136511178G>C - - HTATSF1_000001 - - - - Germline - - - - - Yu Sun
?/. 10 c.1433G>C r.(?) p.(Gly478Ala) - VUS g.135593337G>C g.136511178G>C G478A - HTATSF1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1433G>C r.(?) p.(Gly478Ala) - likely benign g.135593337G>C g.136511178G>C HTATSF1(NM_001163280.1):c.1433G>C (p.(Gly478Ala)) - HTATSF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1471G>A r.(?) p.(Val491Ile) - likely benign g.135593375G>A - HTATSF1(NM_001163280.1):c.1471G>A (p.V491I) - HTATSF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 10 c.1725C>T r.(?) p.(=) - likely benign g.135593629C>T g.136511470C>T D575D - HTATSF1_000008 recurrent, found 20 times PubMed: Tarpey 2009 - - Germline - 20/208 cases - 0 - Lucy Raymond
-?/. - c.1738G>A r.(?) p.(Glu580Lys) - likely benign g.135593642G>A g.136511483G>A HTATSF1(NM_001163280.1):c.1738G>A (p.E580K) - HTATSF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1807G>A r.(?) p.(Glu603Lys) - likely benign g.135593711G>A g.136511552G>A HTATSF1(NM_001163280.1):c.1807G>A (p.E603K) - HTATSF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1822G>A r.(?) p.(Glu608Lys) - likely benign g.135593726G>A g.136511567G>A HTATSF1(NM_001163280.1):c.1822G>A (p.E608K) - HTATSF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2135A>G r.(?) p.(Asp712Gly) - likely benign g.135594039A>G g.136511880A>G HTATSF1(NM_001163280.1):c.2135A>G (p.D712G) - HTATSF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2138C>G r.(?) p.(Ser713Cys) - VUS g.135594042C>G g.136511883C>G HTATSF1(NM_001163280.1):c.2138C>G (p.(Ser713Cys)) - HTATSF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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