ClinVar

NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)

Gene:

SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 92112562 (on Assembly GRCh38)
• Chr9: 94874844 (on Assembly GRCh37)

Preferred name:

NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)

HGVS:

• NC_000009.12:g.92112562C>A
• NG_007950.1:g.7847G>T
• NM_001281303.2:c.58G>T
• NM_001368272.1:c.-442G>T
• NM_001368273.1:c.-408G>T
• NM_006415.4:c.58G>TMANE SELECT
• NM_178324.3:c.58G>T
• NP_001268232.1:p.Ala20Ser
• NP_006406.1:p.Ala20Ser
• NP_006406.1:p.Ala20Ser
• NP_847894.1:p.Ala20Ser
• LRG_272t1:c.58G>T
• LRG_272:g.7847G>T
• LRG_272p1:p.Ala20Ser
• NC_000009.11:g.94874844C>A
• NM_006415.2:c.58G>T
• NM_006415.3:c.58G>T
• c.58G-T, EX2DEL

This HGVS expression did not pass validation

Protein change:

A20S

Links:

OMIM: 605712.0011; dbSNP: rs879254294

NCBI 1000 Genomes Browser:

rs879254294

Molecular consequence:

• NM_001368272.1:c.-442G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001368273.1:c.-408G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281303.2:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006415.4:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178324.3:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

exon loss [Variation Ontology: 0381]