Variant (rsID / SNP)

rs367601527

rs367601527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCCS. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HCCSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
Allele change: Missense_A174V

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.