ClinVar

NM_001037.5(SCN1B):c.448+112G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 35033851 (on Assembly GRCh38)
• Chr19: 35524755 (on Assembly GRCh37)

Preferred name:

NM_001037.5(SCN1B):c.448+112G>A

Other names:

p.R187H:CGC>CAC

HGVS:

• NC_000019.10:g.35033851G>A
• NG_013359.1:g.8164G>A
• NM_001037.5:c.448+112G>AMANE SELECT
• NM_001321605.2:c.349+112G>A
• NM_199037.5:c.560G>A
• NP_950238.1:p.Arg187His
• LRG_420t1:c.448+112G>A
• LRG_420:g.8164G>A
• NC_000019.9:g.35524755G>A
• NM_001037.4:c.448+112G>A
• NM_199037.2:c.560G>A
• NM_199037.3:c.560G>A

This HGVS expression did not pass validation

Protein change:

R187H

Links:

dbSNP: rs72558026

NCBI 1000 Genomes Browser:

rs72558026

Molecular consequence:

• NM_001037.5:c.448+112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321605.2:c.349+112G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_199037.5:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]