Variant (rsID / SNP)
rs141893504
rs141893504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEMA3D. Location: chromosome 7, position 84,651,849. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SEMA3DConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:84651849
- Cytoband
- 7q21.11
- HGVS
- NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
- Allele change
- Missense_H424Q
Associated conditions / phenotypes
Aganglionic megacolon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.