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Variant (rsID / SNP)

rs200163795

NR5A1

rs200163795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR5A1. Location: chromosome 9, position 127,262,871. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NR5A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:127262871
Cytoband
9q33.3
HGVS
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)
Allele change
Missense_G123A

Public references

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