ClinVar

NM_000268.4(NF2):c.516+259A>C

Gene:

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

• Chr22: 29654984 (on Assembly GRCh38)
• Chr22: 30050973 (on Assembly GRCh37)

Preferred name:

NM_000268.4(NF2):c.516+259A>C

HGVS:

• NC_000022.11:g.29654984A>C
• NG_009057.1:g.56429A>C
• NM_000268.4:c.516+259A>CMANE SELECT
• NM_016418.5:c.516+259A>C
• NM_181825.3:c.516+259A>C
• NM_181828.3:c.390+259A>C
• NM_181829.3:c.393+259A>C
• NM_181830.3:c.267+259A>C
• NM_181831.3:c.267+259A>C
• NM_181832.3:c.516+259A>C
• NM_181833.3:c.447+12699A>C
• LRG_511t2:c.516+259A>C
• LRG_511:g.56429A>C
• NC_000022.10:g.30050973A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs11913715

NCBI 1000 Genomes Browser:

rs11913715

Molecular consequence:

• NM_000268.4:c.516+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_016418.5:c.516+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181825.3:c.516+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181828.3:c.390+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181829.3:c.393+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181830.3:c.267+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181831.3:c.267+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181832.3:c.516+259A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181833.3:c.447+12699A>C - intron variant - [Sequence Ontology: SO:0001627]