Variant (rsID / SNP)
rs2293275
rs2293275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LHCGR. Location: chromosome 2, position 48,921,375. Clinical significance in the table: Benign.
Reference-table entries
LHCGRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48921375
- Cytoband
- 2p16.3
- HGVS
- NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Hypergonadotropic hypogonadism|Gonadotropin-independent familial sexual precocity|Leydig cell agenesis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.