ClinVar

NM_002529.4(NTRK1):c.585G>A (p.Thr195=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156868515 (on Assembly GRCh38)
• Chr1: 156838307 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.585G>A (p.Thr195=)

HGVS:

• NC_000001.11:g.156868515G>A
• NG_007493.1:g.57766G>A
• NM_001007792.1:c.495G>A
• NM_001012331.2:c.585G>A
• NM_002529.4:c.585G>AMANE SELECT
• NP_001007793.1:p.Thr165=
• NP_001012331.1:p.Thr195=
• NP_001012331.1:p.Thr195=
• NP_002520.2:p.Thr195=
• LRG_261t1:c.495G>A
• LRG_261t2:c.585G>A
• LRG_261:g.57766G>A
• LRG_261p1:p.Thr165=
• LRG_261p2:p.Thr195=
• NC_000001.10:g.156838307G>A
• NM_001012331.1:c.585G>A
• NM_002529.3:c.585G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs182531655

NCBI 1000 Genomes Browser:

rs182531655

Molecular consequence:

• NM_001007792.1:c.495G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001012331.2:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002529.4:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1