ClinVar

NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156864394 (on Assembly GRCh38)
• Chr1: 156834186 (on Assembly GRCh37)

Preferred name:

NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)

HGVS:

• NC_000001.11:g.156864394C>A
• NG_007493.1:g.53645C>A
• NM_001007792.1:c.163C>A
• NM_001012331.2:c.253C>A
• NM_002529.4:c.253C>AMANE SELECT
• NP_001007793.1:p.Arg55Ser
• NP_001012331.1:p.Arg85Ser
• NP_001012331.1:p.Arg85Ser
• NP_002520.2:p.Arg85Ser
• LRG_261t1:c.163C>A
• LRG_261t2:c.253C>A
• LRG_261:g.53645C>A
• LRG_261p1:p.Arg55Ser
• LRG_261p2:p.Arg85Ser
• NC_000001.10:g.156834186C>A
• NM_001012331.1:c.253C>A

This HGVS expression did not pass validation

Protein change:

R55S

Links:

OMIM: 191315.0006; dbSNP: rs543320028

NCBI 1000 Genomes Browser:

rs543320028

Molecular consequence:

• NM_001012331.2:c.253C>A - missense variant - [Sequence Ontology: SO:0001583]