ClinVar

NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)

Genes:

LOC129931648:ATAC-STARR-seq lymphoblastoid silent region 1440 [Gene]
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156860950 (on Assembly GRCh38)
• Chr1: 156830742 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)

Other names:

NM_001012331.1(NTRK1):c.16C>T(p.Arg6Trp); NM_002529.3(NTRK1):c.16C>T(p.Arg6Trp)

HGVS:

• NC_000001.11:g.156860950C>T
• NG_007493.1:g.50201C>T
• NM_001007792.1:c.123-3404C>T
• NM_001012331.2:c.16C>T
• NM_002529.3:c.16C>T
• NM_002529.4:c.16C>TMANE SELECT
• NP_001012331.1:p.Arg6Trp
• NP_001012331.1:p.Arg6Trp
• NP_002520.2:p.Arg6Trp
• LRG_261t1:c.123-3404C>T
• LRG_261t2:c.16C>T
• LRG_261t3:c.16C>T
• LRG_261:g.50201C>T
• LRG_261p2:p.Arg6Trp
• NC_000001.10:g.156830742C>T
• NM_001012331.1:c.16C>T
• P04629:p.Arg6Trp

This HGVS expression did not pass validation

Protein change:

R6W

Links:

UniProtKB: P04629#VAR_068480; dbSNP: rs201472270

NCBI 1000 Genomes Browser:

rs201472270

Molecular consequence:

• NM_001007792.1:c.123-3404C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001012331.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002529.4:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

16