Variant (rsID / SNP)

rs138941448

rs138941448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HR. Location: chromosome 8, position 21,980,023. Clinical significance in the table: Benign.

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Reference-table entries

HRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:21980023
Cytoband: 8p21.3
HGVS: NM_005144.5(HR):c.2104G>T (p.Gly702Trp)
Allele change: Missense_G702W

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.