ClinVar

NM_002529.4(NTRK1):c.1302G>T (p.Thr434=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156874956 (on Assembly GRCh38)
• Chr1: 156844748 (on Assembly GRCh37)

Preferred name:

NM_002529.4(NTRK1):c.1302G>T (p.Thr434=)

HGVS:

• NC_000001.11:g.156874956G>T
• NG_007493.1:g.64207G>T
• NG_092417.1:g.12G>T
• NM_001007204.1:c.1302G>T
• NM_001007792.1:c.1194G>T
• NM_001012331.2:c.1284G>T
• NM_002529.4:c.1302G>TMANE SELECT
• NP_001007205.1:p.Thr434=
• NP_001007793.1:p.Thr398=
• NP_001012331.1:p.Thr428=
• NP_001012331.1:p.Thr428=
• NP_002520.2:p.Thr434=
• NP_002520.2:p.Thr434=
• LRG_261t1:c.1194G>T
• LRG_261t2:c.1284G>T
• LRG_261t3:c.1302G>T
• LRG_261:g.64207G>T
• LRG_261p1:p.Thr398=
• LRG_261p2:p.Thr428=
• LRG_261p3:p.Thr434=
• NC_000001.10:g.156844748G>T
• NM_001012331.1:c.1284G>T
• NM_002529.3:c.1302G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001007204.1:c.1302G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007792.1:c.1194G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001012331.2:c.1284G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002529.4:c.1302G>T - synonymous variant - [Sequence Ontology: SO:0001819]