All transcript 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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
-/. - c.1160G>C 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 13 c.1160G>C - r.(?) p.(Gly387Ala) g.94800624C>G - - - SPTLC1_000002 - PubMed: Verhoeven 2004 - rs119482084 Germline - - - 0 - Johan den Dunnen
-?/. - c.1160G>C 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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