ClinVar

NM_000268.4(NF2):c.1022G>A (p.Arg341Gln)

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: 29671848 (on Assembly GRCh38)
• Chr22: 30067837 (on Assembly GRCh37)

Preferred name:

NM_000268.4(NF2):c.1022G>A (p.Arg341Gln)

HGVS:

• NC_000022.11:g.29671848G>A
• NG_009057.1:g.73293G>A
• NM_000268.4:c.1022G>AMANE SELECT
• NM_016418.5:c.1022G>A
• NM_181825.3:c.1022G>A
• NM_181828.3:c.896G>A
• NM_181829.3:c.899G>A
• NM_181830.3:c.773G>A
• NM_181831.3:c.773G>A
• NM_181832.3:c.1022G>A
• NM_181833.3:c.448-22904G>A
• NP_000259.1:p.Arg341Gln
• NP_000259.1:p.Arg341Gln
• NP_057502.2:p.Arg341Gln
• NP_861546.1:p.Arg341Gln
• NP_861966.1:p.Arg299Gln
• NP_861967.1:p.Arg300Gln
• NP_861968.1:p.Arg258Gln
• NP_861969.1:p.Arg258Gln
• NP_861970.1:p.Arg341Gln
• LRG_511t1:c.1022G>A
• LRG_511t2:c.1022G>A
• LRG_511:g.73293G>A
• LRG_511p1:p.Arg341Gln
• LRG_511p2:p.Arg341Gln
• NC_000022.10:g.30067837G>A
• NM_000268.3:c.1022G>A
• NR_156186.2:n.1504G>A

This HGVS expression did not pass validation

Protein change:

R258Q

Links:

dbSNP: rs754087071

NCBI 1000 Genomes Browser:

rs754087071

Molecular consequence:

• NM_181833.3:c.448-22904G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000268.4:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016418.5:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181825.3:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181828.3:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181829.3:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181830.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181831.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181832.3:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_156186.2:n.1504G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]