ClinVar

NM_002529.4(NTRK1):c.429-1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156868103 (on Assembly GRCh38)
• Chr1: 156837895 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.429-1G>C

HGVS:

• NC_000001.11:g.156868103G>C
• NG_007493.1:g.57354G>C
• NM_001007792.1:c.339-1G>C
• NM_001012331.2:c.429-1G>C
• NM_002529.4:c.429-1G>CMANE SELECT
• LRG_261t1:c.339-1G>C
• LRG_261t2:c.429-1G>C
• LRG_261:g.57354G>C
• NC_000001.10:g.156837895G>C
• NM_001012331.1:c.429-1G>C

This HGVS expression did not pass validation

Links:

OMIM: 191315.0006; dbSNP: rs748672380

NCBI 1000 Genomes Browser:

rs748672380

Molecular consequence:

• NM_001007792.1:c.339-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001012331.2:c.429-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_002529.4:c.429-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]