ClinVar

NM_174934.4(SCN4B):c.480C>T (p.Asn160=)

Gene:

SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 118141320 (on Assembly GRCh38)
• Chr11: 118012035 (on Assembly GRCh37)

Preferred name:

NM_174934.4(SCN4B):c.480C>T (p.Asn160=)

HGVS:

• NC_000011.10:g.118141320G>A
• NG_011710.1:g.16596C>T
• NM_001142348.2:c.78C>T
• NM_001142349.2:c.150C>T
• NM_174934.4:c.480C>TMANE SELECT
• NP_001135820.1:p.Asn26=
• NP_001135821.1:p.Asn50=
• NP_777594.1:p.Asn160=
• NP_777594.1:p.Asn160=
• LRG_330t1:c.480C>T
• LRG_330:g.16596C>T
• LRG_330p1:p.Asn160=
• NC_000011.9:g.118012035G>A
• NM_174934.3:c.480C>T
• NR_024527.2:n.469C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs72546675

NCBI 1000 Genomes Browser:

rs72546675

Molecular consequence:

• NR_024527.2:n.469C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001142348.2:c.78C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142349.2:c.150C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174934.4:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]