ClinVar

NM_000334.4(SCN4A):c.4289-301AC[19]

Genes:

GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q23.3

Genomic location:

• Chr17: 63942258 - 63942259 (on Assembly GRCh38)
• Chr17: 62019618 - 62019619 (on Assembly GRCh37)

Preferred name:

NM_000334.4(SCN4A):c.4289-301AC[19]

HGVS:

• NC_000017.11:g.63942260TG[19]
• NG_011699.1:g.35625AC[19]
• NG_042788.1:g.25168TG[19]
• NM_000334.4:c.4289-301AC[19]MANE SELECT
• NC_000017.10:g.62019620TG[19]

This HGVS expression did not pass validation

Links:

dbSNP: rs58036769

NCBI 1000 Genomes Browser:

rs58036769

Molecular consequence:

• NM_000334.4:c.4289-301AC[19] - intron variant - [Sequence Ontology: SO:0001627]