ClinVar

NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)

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: 166277091 (on Assembly GRCh38)
• Chr2: 167133601 (on Assembly GRCh37)

Preferred name:

NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)

HGVS:

• NC_000002.12:g.166277091G>A
• NG_012798.1:g.103897C>T
• NM_001365536.1:c.2766C>TMANE SELECT
• NM_002977.4:c.2733C>T
• NP_001352465.1:p.Arg922=
• NP_002968.1:p.Arg911=
• NP_002968.1:p.Arg911=
• NP_002968.2:p.Arg911=
• LRG_369t1:c.2733C>T
• LRG_369:g.103897C>T
• LRG_369p1:p.Arg911=
• NC_000002.11:g.167133601G>A
• NM_002977.2:c.2733C>T
• NM_002977.3:c.2733C>T
• NR_110260.1:n.873G>A
• p.Arg911Arg

This HGVS expression did not pass validation

Links:

dbSNP: rs199653503

NCBI 1000 Genomes Browser:

rs199653503

Molecular consequence:

• NR_110260.1:n.873G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001365536.1:c.2766C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002977.4:c.2733C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2