Variant (rsID / SNP)
rs267607047
rs267607047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHH. Location: chromosome 7, position 155,599,207. Clinical significance in the table: Pathogenic.
Reference-table entries
SHHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:155599207
- Cytoband
- 7q36.3
- HGVS
- NM_000193.4(SHH):c.345C>A (p.Asn115Lys)
- Allele change
- Silent
Associated conditions / phenotypes
Holoprosencephaly 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.