ClinVar

NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31261712 (on Assembly GRCh38)
• Chr17: 29588730 (on Assembly GRCh37)

Preferred name:

NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr)

HGVS:

• NC_000017.11:g.31261712G>T
• NG_009018.1:g.171736G>T
• NM_000267.3:c.4516G>T
• NM_001042492.3:c.4579G>TMANE SELECT
• NP_000258.1:p.Asp1506Tyr
• NP_001035957.1:p.Asp1527Tyr
• NP_001035957.1:p.Asp1527Tyr
• LRG_214t1:c.4516G>T
• LRG_214t2:c.4579G>T
• LRG_214:g.171736G>T
• LRG_214p1:p.Asp1506Tyr
• LRG_214p2:p.Asp1527Tyr
• NC_000017.10:g.29588730G>T
• NM_001042492.2:c.4579G>T
• p.D1527Y

This HGVS expression did not pass validation

Protein change:

D1506Y

Links:

dbSNP: rs587781542

NCBI 1000 Genomes Browser:

rs587781542

Molecular consequence:

• NM_000267.3:c.4516G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042492.3:c.4579G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1