ClinVar

NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro)

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51688792 (on Assembly GRCh38)
• Chr12: 52082576 (on Assembly GRCh37)

Preferred name:

NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro)

HGVS:

• NC_000012.12:g.51688792T>C
• NG_021180.3:g.103835T>C
• NM_001177984.3:c.649T>C
• NM_001330260.2:c.615-213T>CMANE SELECT
• NM_001369788.1:c.615-213T>C
• NM_014191.4:c.649T>C
• NP_001171455.1:p.Ser217Pro
• NP_055006.1:p.Ser217Pro
• LRG_1389t1:c.615-213T>C
• LRG_1389t2:c.649T>C
• LRG_1389:g.103835T>C
• LRG_1389p2:p.Ser217Pro
• NC_000012.11:g.52082576T>C
• NM_014191.3:c.649T>C

This HGVS expression did not pass validation

Protein change:

S217P

Links:

dbSNP: rs1064794715

NCBI 1000 Genomes Browser:

rs1064794715

Molecular consequence:

• NM_001330260.2:c.615-213T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369788.1:c.615-213T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177984.3:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]