ClinVar

NM_001042492.3(NF1):c.6834C>T (p.Cys2278=)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31338718 (on Assembly GRCh38)
• Chr17: 29665736 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.6834C>T (p.Cys2278=)

HGVS:

• NC_000017.11:g.31338718C>T
• NG_009018.1:g.248742C>T
• NM_000267.3:c.6771C>T
• NM_001042492.3:c.6834C>TMANE SELECT
• NP_000258.1:p.Cys2257=
• NP_001035957.1:p.Cys2278=
• NP_001035957.1:p.Cys2278=
• LRG_214t1:c.6771C>T
• LRG_214t2:c.6834C>T
• LRG_214:g.248742C>T
• LRG_214p1:p.Cys2257=
• LRG_214p2:p.Cys2278=
• NC_000017.10:g.29665736C>T
• NM_001042492.2:c.6834C>T
• NM_001042492.3:c.6834C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs149603406

NCBI 1000 Genomes Browser:

rs149603406

Molecular consequence:

• NM_000267.3:c.6771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042492.3:c.6834C>T - synonymous variant - [Sequence Ontology: SO:0001819]