Variant (rsID / SNP)

rs117527954

rs117527954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHH. Location: chromosome 12, position 49,484,933. Clinical significance in the table: Benign.

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Reference-table entries

DHHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:49484933
Cytoband: 12q13.12
HGVS: NM_021044.4(DHH):c.543C>T (p.His181=)
Allele change: Synonymous_H181H

Associated conditions / phenotypes

46,XY sex reversal 7

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.