Variant (rsID / SNP)

rs112016555

rs112016555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HR. Location: chromosome 8, position 21,983,134. Clinical significance in the table: Likely benign.

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Reference-table entries

HRLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:21983134
Cytoband: 8p21.3
HGVS: NM_005144.5(HR):c.1517A>G (p.Glu506Gly)
Allele change: Missense_E506G

Associated conditions / phenotypes

Atrichia with papular lesions|Alopecia universalis congenita

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.