Variant (rsID / SNP)
rs104894043
rs104894043 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHH. Location: chromosome 7, position 155,596,307. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SHHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:155596307
- Cytoband
- 7q36.3
- HGVS
- NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
- Allele change
- Silent
Associated conditions / phenotypes
Holoprosencephaly 3|Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.