Variant (rsID / SNP)

rs121912555

rs121912555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INSL3. Location: chromosome 19, position 17,927,729. Clinical significance in the table: Pathogenic.

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Reference-table entries

INSL3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:17927729
Cytoband: 19p13.11
HGVS: NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)
Allele change: Missense_T142S

Associated conditions / phenotypes

Cryptorchidism

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.