ClinVar

NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31343015 (on Assembly GRCh38)
• Chr17: 29670033 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)

HGVS:

• NC_000017.11:g.31343015G>A
• NG_009018.1:g.253039G>A
• NM_000267.3:c.7006G>A
• NM_001042492.3:c.7069G>AMANE SELECT
• NP_000258.1:p.Glu2336Lys
• NP_001035957.1:p.Glu2357Lys
• NP_001035957.1:p.Glu2357Lys
• LRG_214t1:c.7006G>A
• LRG_214t2:c.7069G>A
• LRG_214:g.253039G>A
• LRG_214p1:p.Glu2336Lys
• LRG_214p2:p.Glu2357Lys
• NC_000017.10:g.29670033G>A
• NM_001042492.2:c.7069G>A
• P21359:p.Glu2357Lys

This HGVS expression did not pass validation

Protein change:

E2336K

Links:

UniProtKB: P21359#VAR_021765; UniProtKB/Swiss-Prot: VAR_021765; dbSNP: rs199474784

NCBI 1000 Genomes Browser:

rs199474784

Molecular consequence:

• NM_000267.3:c.7006G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042492.3:c.7069G>A - missense variant - [Sequence Ontology: SO:0001583]