ClinVar

NM_002449.5(MSX2):c.379+59G>A

Gene:

MSX2:msh homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.2

Genomic location:

• Chr5: 174725097 (on Assembly GRCh38)
• Chr5: 174152100 (on Assembly GRCh37)

Preferred name:

NM_002449.5(MSX2):c.379+59G>A

HGVS:

• NC_000005.10:g.174725097G>A
• NG_008124.1:g.5526G>A
• NM_001363626.2:c.*3+30G>A
• NM_002449.5:c.379+59G>AMANE SELECT
• NC_000005.9:g.174152100G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2048152

NCBI 1000 Genomes Browser:

rs2048152

Molecular consequence:

• NM_001363626.2:c.*3+30G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002449.5:c.379+59G>A - intron variant - [Sequence Ontology: SO:0001627]