Full data view for gene SPTLC1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_006415.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-19C>T likely benign r.(?) p.(=) Unknown g.94877671G>A - SPTLC1(NM_001281303.2):c.-19C>T - SPTLC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.120C>G VUS r.(?) p.(Phe40Leu) Unknown g.94874782G>C - SPTLC1(NM_001281303.2):c.120C>G (p.F40L) - SPTLC1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+71T>A - r.(=) p.(=) Parent #1 g.94874666A>T - - - SPTLC1_000017 - - - rs7019642 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.165+88T>A - r.(=) p.(=) Parent #1 g.94874649A>T - - - SPTLC1_000016 - - - rs7019629 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.223A>C VUS r.(?) p.(Lys75Gln) Unknown g.94871059T>G - SPTLC1(NM_001281303.1):c.223A>C (p.K75Q) - SPTLC1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261-18A>G benign r.(=) p.(=) Unknown g.94843263T>C - SPTLC1(NM_001281303.2):c.261-18A>G - SPTLC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.367G>A VUS r.(?) p.(Ala123Thr) Unknown g.94842358C>T - SPTLC1(NM_001281303.2):c.367G>A (p.A123T) - SPTLC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397T>C pathogenic r.(?) p.(Cys133Arg) Unknown g.94842328A>G - SPTLC1(NM_006415.2):c.397T>C (p.C133R) - SPTLC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.397T>C - r.(?) p.(Cys133Arg) Unknown g.94842328A>G - - - SPTLC1_000003 - PubMed: Rotthier 2011 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Rotthier 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.398G>A pathogenic r.(?) p.(Cys133Tyr) Unknown g.94842327C>T - SPTLC1(NM_006415.2):c.398G>A (p.C133Y) - SPTLC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.398G>A - r.(?) p.(Cys133Tyr) Unknown g.94842327C>T - - - SPTLC1_000004 - PubMed: Dawkins 2001 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Dawkins 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.399T>G pathogenic r.(?) p.(Cys133Trp) Unknown g.94842326A>C - SPTLC1(NM_006415.2):c.399T>G (p.C133W) - SPTLC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.399T>G - r.(?) p.(Cys133Trp) Unknown g.94842326A>C - - - SPTLC1_000005 - PubMed: Dawkins 2001 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Dawkins 2001 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.427+446C>T likely benign r.(=) p.(=) Unknown g.94841852G>A - SPTLC1(NM_001281303.2):c.427+446C>T - SPTLC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.431T>A pathogenic r.(?) p.(Val144Asp) Unknown g.94830377A>T - SPTLC1(NM_006415.2):c.431T>A (p.V144D) - SPTLC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.431T>A - r.(?) p.(Val144Asp) Unknown g.94830377A>T - - - SPTLC1_000006 - PubMed: Dawkins 2001 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Dawkins 2001 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.452G>T - r.(?) p.(Arg151Leu) Parent #1 g.94830356C>A - - - SPTLC1_000015 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.452G>T benign r.(?) p.(Arg151Leu) Unknown g.94830356C>A - SPTLC1(NM_001281303.1):c.452G>T (p.R151L), SPTLC1(NM_001281303.2):c.452G>T (p.R151L) - SPTLC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.452G>T benign r.(?) p.(Arg151Leu) Unknown g.94830356C>A - SPTLC1(NM_001281303.1):c.452G>T (p.R151L), SPTLC1(NM_001281303.2):c.452G>T (p.R151L) - SPTLC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.560+16G>C benign r.(=) p.(=) Unknown g.94830232C>G - SPTLC1(NM_006415.2):c.560+16G>C - SPTLC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.560+16G>C benign r.(=) p.(=) Unknown g.94830232C>G - SPTLC1(NM_006415.2):c.560+16G>C - SPTLC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655C>T VUS r.(?) p.(Arg219*) Unknown g.94821496G>A - SPTLC1(NM_001281303.2):c.655C>T (p.R219*) - SPTLC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707G>T VUS r.(?) p.(Arg236Leu) Unknown g.94817760C>A - SPTLC1(NM_001281303.2):c.707G>T (p.R236L) - SPTLC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.781-6A>G benign r.(=) p.(=) Unknown g.94812355T>C - SPTLC1(NM_001281303.2):c.781-6A>G, SPTLC1(NM_006415.2):c.781-6A>G - SPTLC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.781-6A>G benign r.(=) p.(=) Unknown g.94812355T>C - SPTLC1(NM_001281303.2):c.781-6A>G, SPTLC1(NM_006415.2):c.781-6A>G - SPTLC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.795C>T likely benign r.(?) p.(=) Unknown g.94812335G>A - SPTLC1(NM_001281303.2):c.795C>T (p.Y265=) - SPTLC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.889-6C>T likely benign r.(=) p.(=) Unknown g.94809996G>A - SPTLC1(NM_006415.2):c.889-6C>T - SPTLC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889-5G>A VUS r.spl? p.? Unknown g.94809995C>T - SPTLC1(NM_001281303.1):c.889-5G>A - SPTLC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.985-5C>T benign r.spl? p.? Unknown g.94809555G>A - SPTLC1(NM_001281303.1):c.985-5C>T - SPTLC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.992C>T pathogenic r.(?) p.(Ser331Phe) Unknown g.94809543G>A - SPTLC1(NM_006415.2):c.992C>T (p.S331F) - SPTLC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.992C>T - r.(?) p.(Ser331Phe) Unknown g.94809543G>A - - - SPTLC1_000007 - PubMed: Rotthier 2009 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Rotthier 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1055C>T - r.(?) p.(Ala352Val) Unknown g.94809480G>A - - - SPTLC1_000001 - PubMed: Rotthier 2009 - - Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Rotthier 2009 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1111G>A likely benign r.(?) p.(Gly371Arg) Unknown g.94808306C>T - SPTLC1(NM_001281303.1):c.1111G>A (p.G371R) - SPTLC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1136+12A>G benign r.(=) p.(=) Unknown g.94808269T>C - SPTLC1(NM_001281303.2):c.1136+12A>G - SPTLC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1136+66G>A - r.(=) p.(=) Parent #1 g.94808215C>T - - - SPTLC1_000014 - - - rs77660866 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1137-43C>G - r.(=) p.(=) Parent #1 g.94800690G>C - - - SPTLC1_000013 - - - rs3750441 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1137-15_1137-14dup benign r.(=) p.(=) Unknown g.94800670_94800671dup - SPTLC1(NM_001281303.2):c.1137-15_1137-14dupGT - SPTLC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1160G>C benign r.(?) p.(Gly387Ala) Unknown g.94800624C>G - SPTLC1(NM_001281303.1):c.1160G>C (p.G387A), SPTLC1(NM_006415.2):c.1160G>C (p.G387A) - SPTLC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1160G>C - r.(?) p.(Gly387Ala) Unknown g.94800624C>G - - - SPTLC1_000002 - PubMed: Verhoeven 2004 - rs119482084 Germline - - - 0 - DNA SEQ - - HSAN - PubMed: Verhoeven 2004 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1160G>C likely benign r.(?) p.(Gly387Ala) Unknown g.94800624C>G - SPTLC1(NM_001281303.1):c.1160G>C (p.G387A), SPTLC1(NM_006415.2):c.1160G>C (p.G387A) - SPTLC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1255-7C>T benign r.(=) p.(=) Unknown g.94797172G>A - SPTLC1(NM_001281303.2):c.1255-7C>T - SPTLC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411G>A likely benign r.(?) p.(Val471Ile) Unknown g.94794758C>T - SPTLC1(NM_001281303.1):c.1379G>A (p.R460H) - SPTLC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*45_*46del likely benign r.(=) p.(=) Unknown g.94794705_94794706del - SPTLC1(NM_001281303.2):c.1435_1436delAG (p.R479Dfs*21) - SPTLC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*60C>T VUS r.(=) p.(=) Unknown g.94794687G>A - SPTLC1(NM_001281303.2):c.1450C>T (p.R484C) - SPTLC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*61G>A likely benign r.(=) p.(=) Unknown g.94794686C>T - SPTLC1(NM_001281303.2):c.1451G>A (p.R484H) - SPTLC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*124A>G likely benign r.(=) p.(=) Unknown g.94794623T>C - SPTLC1(NM_001281303.2):c.1514A>G (p.K505R) - SPTLC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*178del - r.(=) p.(=) Parent #1 g.94794569del - - - SPTLC1_000012 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.*1389G>A - r.(=) p.(=) Parent #1 g.94793358C>T - - - SPTLC1_000011 - - - rs12002804 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
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