ClinVar

NM_001040151.2(SCN3B):c.390G>T (p.Ala130=)

Gene:

SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.1

Genomic location:

• Chr11: 123642501 (on Assembly GRCh38)
• Chr11: 123513209 (on Assembly GRCh37)

Preferred name:

NM_001040151.2(SCN3B):c.390G>T (p.Ala130=)

HGVS:

• NC_000011.10:g.123642501C>A
• NG_016283.1:g.17107G>T
• NM_001040151.2:c.390G>TMANE SELECT
• NM_018400.4:c.390G>T
• NP_001035241.1:p.Ala130=
• NP_060870.1:p.Ala130=
• NP_060870.1:p.Ala130=
• LRG_421t1:c.390G>T
• LRG_421:g.17107G>T
• LRG_421p1:p.Ala130=
• NC_000011.9:g.123513209C>A
• NM_018400.3:c.390G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148484744

NCBI 1000 Genomes Browser:

rs148484744

Molecular consequence:

• NM_001040151.2:c.390G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018400.4:c.390G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1