ClinVar

NM_002544.5(OMG):c.516G>A (p.Val172=)

Genes:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31295816 (on Assembly GRCh38)
• Chr17: 29622834 (on Assembly GRCh37)

Preferred name:

NM_002544.5(OMG):c.516G>A (p.Val172=)

HGVS:

• NC_000017.11:g.31295816C>T
• NG_009018.1:g.205840C>T
• NM_000267.3:c.4773-30004C>T
• NM_001042492.3:c.4836-30004C>TMANE SELECT
• NM_002544.5:c.516G>AMANE SELECT
• NP_002535.3:p.Val172=
• LRG_214t1:c.4773-30004C>T
• LRG_214:g.205840C>T
• NC_000017.10:g.29622834C>T
• NM_002544.4:c.516G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000267.3:c.4773-30004C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042492.3:c.4836-30004C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002544.5:c.516G>A - synonymous variant - [Sequence Ontology: SO:0001819]