ClinVar

NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu)

Genes:

SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166272421 (on Assembly GRCh38)
• Chr2: 167128931 (on Assembly GRCh37)

Preferred name:

NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu)

Other names:

p.Ser1099Leu

HGVS:

• NC_000002.12:g.166272421G>A
• NG_012798.1:g.108567C>T
• NM_001365536.1:c.3329C>TMANE SELECT
• NM_002977.4:c.3296C>T
• NP_001352465.1:p.Ser1110Leu
• NP_002968.1:p.Ser1099Leu
• NP_002968.1:p.Ser1099Leu
• NP_002968.2:p.Ser1099Leu
• LRG_369t1:c.3296C>T
• LRG_369:g.108567C>T
• LRG_369p1:p.Ser1099Leu
• NC_000002.11:g.167128931G>A
• NM_002977.2:c.3296C>T
• NM_002977.3:c.3296C>T

This HGVS expression did not pass validation

Protein change:

S1099L

Links:

dbSNP: rs145258166

NCBI 1000 Genomes Browser:

rs145258166

Molecular consequence:

• NM_001365536.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002977.4:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]