ClinVar

NM_000875.5(IGF1R):c.-51T>C

Genes:

IRAIN:IGF1R antisense imprinted non-protein coding RNA [Gene - OMIM - HGNC]
IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.3

Genomic location:

• Chr15: 98649531 (on Assembly GRCh38)
• Chr15: 99192760 (on Assembly GRCh37)

Preferred name:

NM_000875.5(IGF1R):c.-51T>C

HGVS:

• NC_000015.10:g.98649531T>C
• NG_009492.1:g.5000T>C
• NG_045221.1:g.6691A>G
• NM_000875.5:c.-51T>CMANE SELECT
• NM_001291858.2:c.-51T>C
• LRG_1055t1:c.-51T>C
• LRG_1055t2:c.-51T>C
• LRG_1064t1:n.1257A>G
• LRG_1055:g.5000T>C
• LRG_1064:g.6691A>G
• NC_000015.9:g.99192760T>C
• NM_000875.3:c.-51T>C
• NR_126453.2:n.1257A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs777217358

NCBI 1000 Genomes Browser:

rs777217358

Molecular consequence:

• NM_000875.5:c.-51T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001291858.2:c.-51T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_126453.2:n.1257A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]