ClinVar

NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806638 (on Assembly GRCh38)
• Chr12: 52200422 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser)

HGVS:

• NC_000012.12:g.51806638C>T
• NG_021180.3:g.221681C>T
• NM_001177984.3:c.5029C>T
• NM_001330260.2:c.5152C>TMANE SELECT
• NM_001369788.1:c.5029C>T
• NM_014191.4:c.5152C>T
• NP_001171455.1:p.Pro1677Ser
• NP_001317189.1:p.Pro1718Ser
• NP_001356717.1:p.Pro1677Ser
• NP_055006.1:p.Pro1718Ser
• LRG_1389t1:c.5152C>T
• LRG_1389t2:c.5152C>T
• LRG_1389:g.221681C>T
• LRG_1389p1:p.Pro1718Ser
• LRG_1389p2:p.Pro1718Ser
• NC_000012.11:g.52200422C>T

This HGVS expression did not pass validation

Protein change:

P1677S

Links:

dbSNP: rs794727442

NCBI 1000 Genomes Browser:

rs794727442

Molecular consequence:

• NM_001177984.3:c.5029C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.5152C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.5029C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.5152C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2