ClinVar

NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31330454 (on Assembly GRCh38)
• Chr17: 29657472 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)

HGVS:

• NC_000017.11:g.31330454C>T
• NG_009018.1:g.240478C>T
• NM_000267.3:c.5705C>T
• NM_001042492.3:c.5768C>TMANE SELECT
• NP_000258.1:p.Thr1902Met
• NP_001035957.1:p.Thr1923Met
• NP_001035957.1:p.Thr1923Met
• LRG_214t1:c.5705C>T
• LRG_214t2:c.5768C>T
• LRG_214:g.240478C>T
• LRG_214p1:p.Thr1902Met
• LRG_214p2:p.Thr1923Met
• NC_000017.10:g.29657472C>T
• NM_001042492.2:c.5768C>T
• NM_001042492.3:c.5768C>T
• p.T1923M

This HGVS expression did not pass validation

Protein change:

T1902M

Links:

dbSNP: rs786203824

NCBI 1000 Genomes Browser:

rs786203824

Molecular consequence:

• NM_000267.3:c.5705C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042492.3:c.5768C>T - missense variant - [Sequence Ontology: SO:0001583]