ClinVar

NM_002529.4(NTRK1):c.39C>T (p.His13=)

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: 156860973 (on Assembly GRCh38)
• Chr1: 156830765 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.39C>T (p.His13=)

HGVS:

• NC_000001.11:g.156860973C>T
• NG_007493.1:g.50224C>T
• NG_164690.1:g.233C>T
• NG_164691.1:g.143C>T
• NM_001007204.1:c.39C>T
• NM_001007792.1:c.123-3381C>T
• NM_001012331.2:c.39C>T
• NM_002529.4:c.39C>TMANE SELECT
• NP_001007205.1:p.His13=
• NP_001012331.1:p.His13=
• NP_001012331.1:p.His13=
• NP_002520.2:p.His13=
• NP_002520.2:p.His13=
• LRG_261t1:c.123-3381C>T
• LRG_261t2:c.39C>T
• LRG_261t3:c.39C>T
• LRG_261:g.50224C>T
• LRG_261p2:p.His13=
• LRG_261p3:p.His13=
• NC_000001.10:g.156830765C>T
• NM_001012331.1:c.39C>T
• NM_002529.3:c.39C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001007792.1:c.123-3381C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007204.1:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001012331.2:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002529.4:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]