ClinVar

NM_006514.4(SCN10A):c.1516C>T (p.His506Tyr)

Gene:

SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 38752458 (on Assembly GRCh38)
• Chr3: 38793949 (on Assembly GRCh37)

Preferred name:

NM_006514.4(SCN10A):c.1516C>T (p.His506Tyr)

HGVS:

• NC_000003.12:g.38752458G>A
• NG_031891.2:g.46553C>T
• NM_001293306.2:c.1516C>T
• NM_001293307.2:c.1462-2274C>T
• NM_006514.4:c.1516C>TMANE SELECT
• NP_001280235.2:p.His506Tyr
• NP_006505.4:p.His506Tyr
• NC_000003.11:g.38793949G>A

This HGVS expression did not pass validation

Protein change:

H506Y

Links:

dbSNP: rs745555704

NCBI 1000 Genomes Browser:

rs745555704

Molecular consequence:

• NM_001293307.2:c.1462-2274C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293306.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006514.4:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]