ClinVar

NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31226474 (on Assembly GRCh38)
• Chr17: 29553492 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)

Other names:

p.Arg681Ter

HGVS:

• NC_000017.11:g.31226474C>T
• NG_009018.1:g.136498C>T
• NM_000267.3:c.2041C>T
• NM_001042492.3:c.2041C>TMANE SELECT
• NP_000258.1:p.Arg681Ter
• NP_001035957.1:p.Arg681Ter
• NP_001035957.1:p.Arg681Ter
• LRG_214t1:c.2041C>T
• LRG_214t2:c.2041C>T
• LRG_214:g.136498C>T
• LRG_214p1:p.Arg681Ter
• LRG_214p2:p.Arg681Ter
• NC_000017.10:g.29553492C>T
• NM_001042492.2:c.2041C>T
• NM_001042492.3:c.2041C>T
• p.Arg681*

This HGVS expression did not pass validation

Protein change:

R681*

Links:

dbSNP: rs768638173

NCBI 1000 Genomes Browser:

rs768638173

Molecular consequence:

• NM_000267.3:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001042492.3:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

• protein truncation [Variation Ontology: 0015]
• termination codon change [Variation Ontology: 0309]