ClinVar

NM_014215.3(INSRR):c.1785C>T (p.Ile595=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156846544 (on Assembly GRCh38)
• Chr1: 156816336 (on Assembly GRCh37)

Preferred name:

NM_014215.3(INSRR):c.1785C>T (p.Ile595=)

HGVS:

• NC_000001.11:g.156846544G>A
• NG_007493.1:g.35795G>A
• NM_001007792.1:c.122+4351G>A
• NM_014215.3:c.1785C>TMANE SELECT
• NP_055030.1:p.Ile595=
• LRG_261t1:c.122+4351G>A
• LRG_261:g.35795G>A
• NC_000001.10:g.156816336G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs537871557

NCBI 1000 Genomes Browser:

rs537871557

Molecular consequence:

• NM_001007792.1:c.122+4351G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014215.3:c.1785C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1