ClinVar

NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51790487 (on Assembly GRCh38)
• Chr12: 52184271 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)

HGVS:

• NC_000012.12:g.51790487T>C
• NG_021180.3:g.205530T>C
• NM_001177984.3:c.4386T>C
• NM_001330260.2:c.4509T>CMANE SELECT
• NM_001369788.1:c.4386T>C
• NM_014191.4:c.4509T>C
• NM_014191.4:c.4509T>C
• NP_001171455.1:p.Pro1462=
• NP_001317189.1:p.Pro1503=
• NP_001356717.1:p.Pro1462=
• NP_055006.1:p.Pro1503=
• LRG_1389t1:c.4509T>C
• LRG_1389t2:c.4509T>C
• LRG_1389:g.205530T>C
• LRG_1389p1:p.Pro1503=
• LRG_1389p2:p.Pro1503=
• NC_000012.11:g.52184271T>C
• NC_000012.12:g.51790487T>C
• NM_014191.2:c.4509T>C
• NM_014191.3:c.4509T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs303815

NCBI 1000 Genomes Browser:

rs303815

Molecular consequence:

• NM_001177984.3:c.4386T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330260.2:c.4509T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369788.1:c.4386T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014191.4:c.4509T>C - synonymous variant - [Sequence Ontology: SO:0001819]