ClinVar

NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31330479 (on Assembly GRCh38)
• Chr17: 29657497 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)

HGVS:

• NC_000017.11:g.31330479T>C
• NG_009018.1:g.240503T>C
• NM_000267.4:c.5730T>C
• NM_001042492.3:c.5793T>CMANE SELECT
• NP_000258.1:p.Ile1910=
• NP_000258.1:p.Ile1910=
• NP_001035957.1:p.Ile1931=
• NP_001035957.1:p.Ile1931=
• LRG_214t1:c.5730T>C
• LRG_214t2:c.5793T>C
• LRG_214:g.240503T>C
• LRG_214p1:p.Ile1910=
• LRG_214p2:p.Ile1931=
• NC_000017.10:g.29657497T>C
• NM_000267.3:c.5730T>C
• NM_001042492.2:c.5793T>C
• NM_001042492.3:c.5793T>C
• p.I1931I

This HGVS expression did not pass validation

Links:

dbSNP: rs779114598

NCBI 1000 Genomes Browser:

rs779114598

Molecular consequence:

• NM_000267.4:c.5730T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042492.3:c.5793T>C - synonymous variant - [Sequence Ontology: SO:0001819]