Variant (rsID / SNP)

rs104894951

rs104894951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSPAN7. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSPAN7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
Allele change: Missense_P172H

Associated conditions / phenotypes

Intellectual disability, X-linked 58|History of neurodevelopmental disorder

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.