ClinVar

NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)

Gene:

IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

• Chr15: 98908747 (on Assembly GRCh38)
• Chr15: 99451976 (on Assembly GRCh37)

Preferred name:

NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)

HGVS:

• NC_000015.10:g.98908747G>A
• NG_009492.1:g.264216G>A
• NM_000875.5:c.1310G>AMANE SELECT
• NM_001291858.2:c.1310G>A
• NP_000866.1:p.Arg437His
• NP_001278787.1:p.Arg437His
• LRG_1055t1:c.1310G>A
• LRG_1055t2:c.1310G>A
• LRG_1055:g.264216G>A
• LRG_1055p1:p.Arg437His
• LRG_1055p2:p.Arg437His
• NC_000015.9:g.99451976G>A
• NM_000875.3:c.1310G>A
• NM_000875.4:c.1310G>A
• P08069:p.Arg437His

This HGVS expression did not pass validation

Protein change:

R437H

Links:

UniProtKB: P08069#VAR_034893; dbSNP: rs34516635

NCBI 1000 Genomes Browser:

rs34516635

Molecular consequence:

• NM_000875.5:c.1310G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291858.2:c.1310G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1