Variant (rsID / SNP)

rs12720062

rs12720062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INHA. Location: chromosome 2, position 220,439,916. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

INHABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:220439916
Cytoband: 2q35
HGVS: NM_002191.4(INHA):c.769G>A (p.Ala257Thr)
Allele change: Missense_A257T

Associated conditions / phenotypes

Premature ovarian failure

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.