Unique variants in 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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.-19C>T likely benign r.(?) p.(=) g.94877671G>A - SPTLC1(NM_001281303.2):c.-19C>T - SPTLC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.120C>G VUS r.(?) p.(Phe40Leu) g.94874782G>C - SPTLC1(NM_001281303.2):c.120C>G (p.F40L) - SPTLC1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.165+71T>A - r.(=) p.(=) g.94874666A>T - - - SPTLC1_000017 - - - rs7019642 Germline - - - - - Andreas Laner
-/. 1 - c.165+88T>A - r.(=) p.(=) g.94874649A>T - - - SPTLC1_000016 - - - rs7019629 Germline - - - - - Andreas Laner
?/. 1 - c.223A>C VUS r.(?) p.(Lys75Gln) g.94871059T>G - SPTLC1(NM_001281303.1):c.223A>C (p.K75Q) - SPTLC1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.261-18A>G benign r.(=) p.(=) g.94843263T>C - SPTLC1(NM_001281303.2):c.261-18A>G - SPTLC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.367G>A VUS r.(?) p.(Ala123Thr) g.94842358C>T - SPTLC1(NM_001281303.2):c.367G>A (p.A123T) - SPTLC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 5 c.397T>C pathogenic r.(?) p.(Cys133Arg) g.94842328A>G - SPTLC1(NM_006415.2):c.397T>C (p.C133R) - SPTLC1_000003 VKGL data sharing initiative Nederland PubMed: Rotthier 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 2 5 c.398G>A pathogenic r.(?) p.(Cys133Tyr) g.94842327C>T - SPTLC1(NM_006415.2):c.398G>A (p.C133Y) - SPTLC1_000004 VKGL data sharing initiative Nederland PubMed: Dawkins 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 2 5 c.399T>G pathogenic r.(?) p.(Cys133Trp) g.94842326A>C - SPTLC1(NM_006415.2):c.399T>G (p.C133W) - SPTLC1_000005 VKGL data sharing initiative Nederland PubMed: Dawkins 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
-?/. 1 - c.427+446C>T likely benign r.(=) p.(=) g.94841852G>A - SPTLC1(NM_001281303.2):c.427+446C>T - SPTLC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 6 c.431T>A pathogenic r.(?) p.(Val144Asp) g.94830377A>T - SPTLC1(NM_006415.2):c.431T>A (p.V144D) - SPTLC1_000006 VKGL data sharing initiative Nederland PubMed: Dawkins 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
-/. 3 - c.452G>T benign r.(?) p.(Arg151Leu) 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, Germline - - - - - VKGL-NL_AMC, Andreas Laner, VKGL-NL_Utrecht
-/. 2 - c.560+16G>C benign r.(=) p.(=) g.94830232C>G - SPTLC1(NM_006415.2):c.560+16G>C - SPTLC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.655C>T VUS r.(?) p.(Arg219*) g.94821496G>A - SPTLC1(NM_001281303.2):c.655C>T (p.R219*) - SPTLC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.707G>T VUS r.(?) p.(Arg236Leu) g.94817760C>A - SPTLC1(NM_001281303.2):c.707G>T (p.R236L) - SPTLC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.781-6A>G benign r.(=) p.(=) 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.795C>T likely benign r.(?) p.(=) g.94812335G>A - SPTLC1(NM_001281303.2):c.795C>T (p.Y265=) - SPTLC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.889-6C>T likely benign r.(=) p.(=) g.94809996G>A - SPTLC1(NM_006415.2):c.889-6C>T - SPTLC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.889-5G>A VUS r.spl? p.? g.94809995C>T - SPTLC1(NM_001281303.1):c.889-5G>A - SPTLC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.985-5C>T benign r.spl? p.? g.94809555G>A - SPTLC1(NM_001281303.1):c.985-5C>T - SPTLC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 11 c.992C>T pathogenic r.(?) p.(Ser331Phe) g.94809543G>A - SPTLC1(NM_006415.2):c.992C>T (p.S331F) - SPTLC1_000007 VKGL data sharing initiative Nederland PubMed: Rotthier 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 1 11 c.1055C>T - r.(?) p.(Ala352Val) g.94809480G>A - - - SPTLC1_000001 - PubMed: Rotthier 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1111G>A likely benign r.(?) p.(Gly371Arg) g.94808306C>T - SPTLC1(NM_001281303.1):c.1111G>A (p.G371R) - SPTLC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1136+12A>G benign r.(=) p.(=) g.94808269T>C - SPTLC1(NM_001281303.2):c.1136+12A>G - SPTLC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1136+66G>A - r.(=) p.(=) g.94808215C>T - - - SPTLC1_000014 - - - rs77660866 Germline - - - - - Andreas Laner
-/. 1 - c.1137-43C>G - r.(=) p.(=) g.94800690G>C - - - SPTLC1_000013 - - - rs3750441 Germline - - - - - Andreas Laner
-/. 1 - c.1137-15_1137-14dup benign r.(=) p.(=) g.94800670_94800671dup - SPTLC1(NM_001281303.2):c.1137-15_1137-14dupGT - SPTLC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/., +/. 3 13 c.1160G>C benign, likely benign r.(?) p.(Gly387Ala) 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 PubMed: Verhoeven 2004 - rs119482084 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, Johan den Dunnen
-/. 1 - c.1255-7C>T benign r.(=) p.(=) g.94797172G>A - SPTLC1(NM_001281303.2):c.1255-7C>T - SPTLC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1411G>A likely benign r.(?) p.(Val471Ile) g.94794758C>T - SPTLC1(NM_001281303.1):c.1379G>A (p.R460H) - SPTLC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*45_*46del likely benign r.(=) p.(=) g.94794705_94794706del - SPTLC1(NM_001281303.2):c.1435_1436delAG (p.R479Dfs*21) - SPTLC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*60C>T VUS r.(=) p.(=) g.94794687G>A - SPTLC1(NM_001281303.2):c.1450C>T (p.R484C) - SPTLC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*61G>A likely benign r.(=) p.(=) g.94794686C>T - SPTLC1(NM_001281303.2):c.1451G>A (p.R484H) - SPTLC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*124A>G likely benign r.(=) p.(=) g.94794623T>C - SPTLC1(NM_001281303.2):c.1514A>G (p.K505R) - SPTLC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*178del - r.(=) p.(=) g.94794569del - - - SPTLC1_000012 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.*1389G>A - r.(=) p.(=) g.94793358C>T - - - SPTLC1_000011 - - - rs12002804 Germline - - - - - Andreas Laner
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