ClinVar

NM_000268.4(NF2):c.1466C>T (p.Ala489Val)

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: 29678215 (on Assembly GRCh38)
• Chr22: 30074204 (on Assembly GRCh37)

Preferred name:

NM_000268.4(NF2):c.1466C>T (p.Ala489Val)

HGVS:

• NC_000022.11:g.29678215C>T
• NG_009057.1:g.79660C>T
• NM_000268.4:c.1466C>TMANE SELECT
• NM_016418.5:c.1466C>T
• NM_181825.3:c.1466C>T
• NM_181828.3:c.1340C>T
• NM_181829.3:c.1343C>T
• NM_181830.3:c.1217C>T
• NM_181831.3:c.1217C>T
• NM_181832.3:c.1466C>T
• NM_181833.3:c.448-16537C>T
• NP_000259.1:p.Ala489Val
• NP_057502.2:p.Ala489Val
• NP_861546.1:p.Ala489Val
• NP_861966.1:p.Ala447Val
• NP_861967.1:p.Ala448Val
• NP_861968.1:p.Ala406Val
• NP_861969.1:p.Ala406Val
• NP_861970.1:p.Ala489Val
• LRG_511t1:c.1466C>T
• LRG_511t2:c.1466C>T
• LRG_511:g.79660C>T
• LRG_511p2:p.Ala489Val
• NC_000022.10:g.30074204C>T
• NM_000268.3:c.1466C>T
• NR_156186.2:n.1948C>T

This HGVS expression did not pass validation

Protein change:

A406V

Links:

dbSNP: rs1156963577

NCBI 1000 Genomes Browser:

rs1156963577

Molecular consequence:

• NM_181833.3:c.448-16537C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000268.4:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016418.5:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181825.3:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181828.3:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181829.3:c.1343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181830.3:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181831.3:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181832.3:c.1466C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_156186.2:n.1948C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]