Variant (rsID / SNP)

rs148782064

rs148782064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HR. Location: chromosome 8, position 21,986,269. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:21986269
Cytoband: 8p21.3
HGVS: NM_005144.5(HR):c.415C>T (p.Arg139Trp)
Allele change: Missense_R139W

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.