Variant (rsID / SNP)

rs121912530

rs121912530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LHCGR. Location: chromosome 2, position 48,915,062. Clinical significance in the table: Pathogenic.

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Reference-table entries

LHCGRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:48915062
Cytoband: 2p16.3
HGVS: NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys)
Allele change: Silent

Associated conditions / phenotypes

Leydig cell hypoplasia, type II

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.