ClinVar

NM_000268.4(NF2):c.1270C>T (p.Arg424Cys)

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: 29673416 (on Assembly GRCh38)
• Chr22: 30069405 (on Assembly GRCh37)

Preferred name:

NM_000268.4(NF2):c.1270C>T (p.Arg424Cys)

HGVS:

• NC_000022.11:g.29673416C>T
• NG_009057.1:g.74861C>T
• NM_000268.4:c.1270C>TMANE SELECT
• NM_016418.5:c.1270C>T
• NM_181825.3:c.1270C>T
• NM_181828.3:c.1144C>T
• NM_181829.3:c.1147C>T
• NM_181830.3:c.1021C>T
• NM_181831.3:c.1021C>T
• NM_181832.3:c.1270C>T
• NM_181833.3:c.448-21336C>T
• NP_000259.1:p.Arg424Cys
• NP_000259.1:p.Arg424Cys
• NP_057502.2:p.Arg424Cys
• NP_861546.1:p.Arg424Cys
• NP_861966.1:p.Arg382Cys
• NP_861967.1:p.Arg383Cys
• NP_861968.1:p.Arg341Cys
• NP_861969.1:p.Arg341Cys
• NP_861970.1:p.Arg424Cys
• LRG_511t1:c.1270C>T
• LRG_511t2:c.1270C>T
• LRG_511:g.74861C>T
• LRG_511p1:p.Arg424Cys
• LRG_511p2:p.Arg424Cys
• NC_000022.10:g.30069405C>T
• NM_000268.3:c.1270C>T
• NR_156186.2:n.1752C>T

This HGVS expression did not pass validation

Protein change:

R341C

Links:

dbSNP: rs763826793

NCBI 1000 Genomes Browser:

rs763826793

Molecular consequence:

• NM_181833.3:c.448-21336C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000268.4:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016418.5:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181825.3:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181828.3:c.1144C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181829.3:c.1147C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181830.3:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181831.3:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181832.3:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_156186.2:n.1752C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]