ClinVar

NM_001365536.1(SCN9A):c.2676C>T (p.Tyr892=)

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: 166277181 (on Assembly GRCh38)
• Chr2: 167133691 (on Assembly GRCh37)

Preferred name:

NM_001365536.1(SCN9A):c.2676C>T (p.Tyr892=)

HGVS:

• NC_000002.12:g.166277181G>A
• NG_012798.1:g.103807C>T
• NM_001365536.1:c.2676C>TMANE SELECT
• NM_002977.4:c.2643C>T
• NP_001352465.1:p.Tyr892=
• NP_002968.1:p.Tyr881=
• NP_002968.1:p.Tyr881=
• NP_002968.2:p.Tyr881=
• LRG_369t1:c.2643C>T
• LRG_369:g.103807C>T
• LRG_369p1:p.Tyr881=
• NC_000002.11:g.167133691G>A
• NM_002977.2:c.2643C>T
• NM_002977.3:c.2643C>T
• NR_110260.1:n.963G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs980034038

NCBI 1000 Genomes Browser:

rs980034038

Molecular consequence:

• NR_110260.1:n.963G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001365536.1:c.2676C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002977.4:c.2643C>T - synonymous variant - [Sequence Ontology: SO:0001819]