ClinVar

NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156860987 (on Assembly GRCh38)
• Chr1: 156830779 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)

HGVS:

• NC_000001.11:g.156860987G>A
• NG_007493.1:g.50238G>A
• NM_001007792.1:c.123-3367G>A
• NM_001012331.2:c.53G>A
• NM_002529.4:c.53G>AMANE SELECT
• NP_001012331.1:p.Gly18Glu
• NP_001012331.1:p.Gly18Glu
• NP_002520.2:p.Gly18Glu
• NP_002520.2:p.Gly18Glu
• LRG_261t1:c.123-3367G>A
• LRG_261t2:c.53G>A
• LRG_261t3:c.53G>A
• LRG_261:g.50238G>A
• LRG_261p2:p.Gly18Glu
• LRG_261p3:p.Gly18Glu
• NC_000001.10:g.156830779G>A
• NM_001012331.1:c.53G>A
• NM_002529.3:c.53G>A
• P04629:p.Gly18Glu

This HGVS expression did not pass validation

Protein change:

G18E

Links:

UniProtKB: P04629#VAR_049714; dbSNP: rs1007211

NCBI 1000 Genomes Browser:

rs1007211

Molecular consequence:

• NM_001007792.1:c.123-3367G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001012331.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002529.4:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

36