Variant (rsID / SNP)
rs104894053
rs104894053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHH. Location: chromosome 7, position 155,599,169. Clinical significance in the table: Pathogenic.
Reference-table entries
SHHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:155599169
- Cytoband
- 7q36.3
- HGVS
- NM_000193.4(SHH):c.383G>A (p.Trp128Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Holoprosencephaly 3|Solitary median maxillary central incisor syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.