ClinVar

NM_001037.5(SCN1B):c.348G>A (p.Ser116=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 35033639 (on Assembly GRCh38)
• Chr19: 35524543 (on Assembly GRCh37)

Preferred name:

NM_001037.5(SCN1B):c.348G>A (p.Ser116=)

Other names:

p.S116S:TCG>TCA

HGVS:

• NC_000019.10:g.35033639G>A
• NG_013359.1:g.7952G>A
• NM_001037.5:c.348G>AMANE SELECT
• NM_001321605.2:c.249G>A
• NM_199037.5:c.348G>A
• NP_001028.1:p.Ser116=
• NP_001308534.1:p.Ser83=
• NP_950238.1:p.Ser116=
• LRG_420t1:c.348G>A
• LRG_420:g.7952G>A
• LRG_420p1:p.Ser116=
• NC_000019.9:g.35524543G>A
• NM_001037.4:c.348G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs375050816

NCBI 1000 Genomes Browser:

rs375050816

Molecular consequence:

• NM_001037.5:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321605.2:c.249G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_199037.5:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2