Full data view for gene HSF1

Information The variants shown are described using the NM_005526.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.1085_1086dup r.(?) p.(Ser363ProfsTer15) Unknown - likely benign g.145535873_145535874dup g.144312187_144312188dup HSF1(NM_005526.2):c.1083_1084insCC (p.(Ser363ProfsTer15)) - HSF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086dup r.(?) p.(Ser363LeufsTer9) Unknown - likely benign g.145535874dup g.144312188dup HSF1(NM_005526.2):c.1083_1084insC (p.(Ser363LeufsTer9)) - HSF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1087T>C r.(?) p.(Ser363Pro) Unknown - likely benign g.145535875T>C g.144312189T>C HSF1(NM_005526.2):c.1087T>C (p.(Ser363Pro)) - HSF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099A>C r.(?) p.(Thr367Pro) Unknown - likely benign g.145535887A>C g.144312201A>C HSF1(NM_005526.2):c.1099A>C (p.(Thr367Pro)) - HSF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102T>C r.(?) p.(Ser368Pro) Unknown - likely benign g.145535890T>C g.144312204T>C HSF1(NM_005526.2):c.1102delinsC (p.(Ser368Pro)) - HSF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1105A>C r.(?) p.(Thr369Pro) Unknown - likely benign g.145535893A>C g.144312207A>C HSF1(NM_005526.2):c.1105delinsC (p.(Thr369Pro)) - HSF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2237G>A r.(=) p.(=) Unknown - benign g.145540230G>A g.144316567G>A DGAT1(NM_012079.5):c.1454C>T (p.A485V), DGAT1(NM_012079.6):c.1454C>T (p.A485V) - DGAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2237G>A r.(=) p.(=) Unknown - benign g.145540230G>A - DGAT1(NM_012079.5):c.1454C>T (p.A485V), DGAT1(NM_012079.6):c.1454C>T (p.A485V) - DGAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2245C>T r.(=) p.(=) Unknown - likely benign g.145540238C>T - DGAT1(NM_012079.6):c.1446G>A (p.E482=) - DGAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2284G>A r.(=) p.(=) Unknown - likely benign g.145540277G>A g.144316614G>A DGAT1(NM_012079.5):c.1407C>T (p.V469=), DGAT1(NM_012079.6):c.1407C>T (p.V469=) - HSF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2284G>A r.(=) p.(=) Unknown - likely benign g.145540277G>A g.144316614G>A DGAT1(NM_012079.5):c.1407C>T (p.V469=), DGAT1(NM_012079.6):c.1407C>T (p.V469=) - HSF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2287G>A r.(=) p.(=) Unknown - likely benign g.145540280G>A - DGAT1(NM_012079.6):c.1404C>T (p.A468=) - HSF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2290T>A r.(=) p.(=) Unknown - benign g.145540283T>A g.144316620T>A DGAT1(NM_012079.5):c.1401A>T (p.I467=), DGAT1(NM_012079.6):c.1401A>T (p.I467=) - HSF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2290T>A r.(=) p.(=) Unknown - likely benign g.145540283T>A - DGAT1(NM_012079.5):c.1401A>T (p.I467=), DGAT1(NM_012079.6):c.1401A>T (p.I467=) - HSF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2312G>A r.(=) p.(=) Unknown - VUS g.145540305G>A - DGAT1(NM_012079.6):c.1379C>T (p.S460L) - DGAT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2356G>A r.(=) p.(=) Unknown - likely benign g.145540349G>A - DGAT1(NM_012079.6):c.1335C>T (p.G445=) - DGAT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2514G>A r.(=) p.(=) Unknown - likely benign g.145540507G>A - DGAT1(NM_012079.6):c.1311+9C>T - HSF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2754G>A r.(=) p.(=) Unknown - likely benign g.145540747G>A - DGAT1(NM_012079.5):c.1186C>T (p.(Arg396Trp)) - HSF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2925G>A r.(=) p.(=) Unknown - likely benign g.145540918G>A - DGAT1(NM_012079.6):c.1095-3C>T - HSF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2929dup r.(?) p.(=) Unknown - likely benign g.145540922dup g.144317259dup DGAT1(NM_012079.6):c.1095-3dupC - HSF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2990del r.(?) p.(=) Unknown - likely benign g.145540983del - DGAT1(NM_012079.6):c.1094+16delG - DGAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2993G>A r.(=) p.(=) Unknown - likely benign g.145540986G>A - DGAT1(NM_012079.6):c.1094+10C>T - DGAT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3077C>T r.(=) p.(=) Unknown - pathogenic g.145541070C>T g.144317407C>T DGAT1(NM_012079.5):c.1020G>A (p.W340*) - HSF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3086G>A r.(=) p.(=) Unknown - likely benign g.145541079G>A - DGAT1(NM_012079.5):c.1011C>T (p.F337=) - DGAT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3088_*3090del r.(=) p.(=) Unknown - VUS g.145541081_145541083del - DGAT1(NM_012079.6):c.1013_1015del (p.(Phe338del)) - HSF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3203T>G r.(=) p.(=) Unknown - likely benign g.145541196T>G g.144317533T>G DGAT1(NM_012079.6):c.981+11A>C - DGAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*3259C>T r.(=) p.(=) Unknown - likely pathogenic g.145541252C>T - DGAT1(NM_012079.6):c.937-1G>A - HSF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3356G>A r.(=) p.(=) Unknown - likely benign g.145541349G>A g.144317686G>A DGAT1(NM_012079.5):c.921C>T (p.S307=) - HSF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3480G>C r.(=) p.(=) Unknown - VUS g.145541473G>C g.144317810G>C DGAT1(NM_012079.5):c.868C>G (p.Q290E) - DGAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3495G>A r.(=) p.(=) Unknown - likely benign g.145541488G>A g.144317825G>A DGAT1(NM_012079.5):c.856-3C>T, DGAT1(NM_012079.6):c.856-3C>T - DGAT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3495G>A r.(=) p.(=) Unknown - likely benign g.145541488G>A g.144317825G>A DGAT1(NM_012079.5):c.856-3C>T, DGAT1(NM_012079.6):c.856-3C>T - DGAT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3620G>C r.(=) p.(=) Unknown - VUS g.145541613G>C - DGAT1(NM_012079.6):c.819C>G (p.(Ile273Met)) - HSF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3642T>C r.(=) p.(=) Unknown - VUS g.145541635T>C g.144317972T>C DGAT1(NM_012079.5):c.797A>G (p.N266S), DGAT1(NM_012079.6):c.797A>G (p.N266S) - HSF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3642T>C r.(=) p.(=) Unknown - likely benign g.145541635T>C - DGAT1(NM_012079.5):c.797A>G (p.N266S), DGAT1(NM_012079.6):c.797A>G (p.N266S) - HSF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3650G>A r.(=) p.(=) Unknown - likely benign g.145541643G>A g.144317980G>A DGAT1(NM_012079.6):c.789C>T (p.Y263=) - HSF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3755A>G r.(=) p.(=) Unknown - likely benign g.145541748A>G g.144318085A>G DGAT1(NM_012079.6):c.751+10T>C - HSF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3768G>A r.(=) p.(=) Unknown - VUS g.145541761G>A - DGAT1(NM_012079.5):c.748C>T (p.R250C) - DGAT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3803G>A r.(=) p.(=) Unknown - likely benign g.145541796G>A g.144318133G>A DGAT1(NM_012079.4):c.713C>T (p.(Pro238Leu)), DGAT1(NM_012079.5):c.713C>T (p.P238L) - HSF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3803G>A r.(=) p.(=) Unknown - likely benign g.145541796G>A - DGAT1(NM_012079.4):c.713C>T (p.(Pro238Leu)), DGAT1(NM_012079.5):c.713C>T (p.P238L) - HSF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3822C>T r.(=) p.(=) Unknown - VUS g.145541815C>T - DGAT1(NM_012079.5):c.694G>A (p.A232T) - DGAT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3997G>A r.(=) p.(=) Unknown - VUS g.145541990G>A - DGAT1(NM_012079.5):c.610C>T (p.L204F) - DGAT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4165C>A r.(=) p.(=) Unknown - likely benign g.145542158C>A - DGAT1(NM_012079.6):c.540G>T (p.A180=) - DGAT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4217G>A r.(=) p.(=) Unknown - VUS g.145542210G>A - DGAT1(NM_012079.5):c.488C>T (p.A163V) - DGAT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4226G>A r.(=) p.(=) Unknown - VUS g.145542219G>A - DGAT1(NM_012079.5):c.479C>T (p.(Thr160Met)) - HSF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4372C>T r.(=) p.(=) Unknown - likely benign g.145542365C>T g.144318702C>T DGAT1(NM_012079.5):c.465G>A (p.A155=) - HSF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12103C>T r.(=) p.(=) Unknown - VUS g.145550096C>T - DGAT1(NM_012079.4):c.200+4G>A (p.?), DGAT1(NM_012079.5):c.200+4G>A - DGAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12103C>T r.(=) p.(=) Unknown - likely benign g.145550096C>T - DGAT1(NM_012079.4):c.200+4G>A (p.?), DGAT1(NM_012079.5):c.200+4G>A - DGAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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