Variant (rsID / SNP)

rs121918125

rs121918125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TACR3. Location: chromosome 4, position 104,512,672. Clinical significance in the table: Pathogenic.

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Reference-table entries

TACR3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:104512672
Cytoband: 4q24
HGVS: NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)
Allele change: Missense_P353S

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 11 with or without anosmia

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.