ClinVar

NM_001365536.1(SCN9A):c.4767C>T (p.Ser1589=)

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: 166203962 (on Assembly GRCh38)
• Chr2: 167060472 (on Assembly GRCh37)

Preferred name:

NM_001365536.1(SCN9A):c.4767C>T (p.Ser1589=)

HGVS:

• NC_000002.12:g.166203962G>A
• NG_012798.1:g.177026C>T
• NM_001365536.1:c.4767C>TMANE SELECT
• NM_002977.4:c.4734C>T
• NP_001352465.1:p.Ser1589=
• NP_002968.1:p.Ser1578=
• NP_002968.1:p.Ser1578=
• NP_002968.2:p.Ser1578=
• LRG_369t1:c.4734C>T
• LRG_369:g.177026C>T
• LRG_369p1:p.Ser1578=
• NC_000002.11:g.167060472G>A
• NM_002977.2:c.4734C>T
• NM_002977.3:c.4734C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200690956

NCBI 1000 Genomes Browser:

rs200690956

Molecular consequence:

• NM_001365536.1:c.4767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002977.4:c.4734C>T - synonymous variant - [Sequence Ontology: SO:0001819]