ClinVar

NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165386906 (on Assembly GRCh38)
• Chr2: 166243416 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)

HGVS:

• NC_000002.12:g.165386906T>C
• NG_008143.1:g.152505T>C
• NM_001040142.2:c.4712T>CMANE SELECT
• NM_001040143.2:c.4712T>C
• NM_001371246.1:c.4712T>C
• NM_001371247.1:c.4712T>C
• NM_021007.3:c.4712T>C
• NP_001035232.1:p.Ile1571Thr
• NP_001035233.1:p.Ile1571Thr
• NP_001358175.1:p.Ile1571Thr
• NP_001358176.1:p.Ile1571Thr
• NP_066287.2:p.Ile1571Thr
• NC_000002.11:g.166243416T>C
• NM_001040142.1:c.4712T>C

This HGVS expression did not pass validation

Protein change:

I1571T

Links:

dbSNP: rs2105398463

NCBI 1000 Genomes Browser:

rs2105398463

Molecular consequence:

• NM_001040142.2:c.4712T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.4712T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.4712T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.4712T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.4712T>C - missense variant - [Sequence Ontology: SO:0001583]