ClinVar

NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 35039214 (on Assembly GRCh38)
• Chr19: 35530118 (on Assembly GRCh37)

Preferred name:

NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)

HGVS:

• NC_000019.10:g.35039214C>T
• NG_013359.1:g.13527C>T
• NM_001037.5:c.546C>TMANE SELECT
• NM_001321605.2:c.447C>T
• NP_001028.1:p.Tyr182=
• NP_001308534.1:p.Tyr149=
• LRG_420t1:c.546C>T
• LRG_420:g.13527C>T
• LRG_420p1:p.Tyr182=
• NC_000019.9:g.35530118C>T
• NM_001037.4:c.546C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs775659068

NCBI 1000 Genomes Browser:

rs775659068

Molecular consequence:

• NM_001037.5:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321605.2:c.447C>T - synonymous variant - [Sequence Ontology: SO:0001819]