ClinVar

NM_002529.4(NTRK1):c.878C>T (p.Ala293Val)

Gene:

NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156873660 (on Assembly GRCh38)
• Chr1: 156843452 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.878C>T (p.Ala293Val)

HGVS:

• NC_000001.11:g.156873660C>T
• NG_007493.1:g.62911C>T
• NM_001007792.1:c.788C>T
• NM_001012331.2:c.878C>T
• NM_002529.4:c.878C>TMANE SELECT
• NP_001007793.1:p.Ala263Val
• NP_001012331.1:p.Ala293Val
• NP_001012331.1:p.Ala293Val
• NP_002520.2:p.Ala293Val
• LRG_261t1:c.788C>T
• LRG_261t2:c.878C>T
• LRG_261:g.62911C>T
• LRG_261p1:p.Ala263Val
• LRG_261p2:p.Ala293Val
• NC_000001.10:g.156843452C>T
• NM_001012331.1:c.878C>T

This HGVS expression did not pass validation

Protein change:

A263V

Links:

dbSNP: rs567093941

NCBI 1000 Genomes Browser:

rs567093941

Molecular consequence:

• NM_001007792.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001012331.2:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002529.4:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]