Variant (rsID / SNP)
rs193922699
rs193922699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RET. Location: chromosome 10, position 43,609,926. Clinical significance in the table: Likely pathogenic.
Reference-table entries
RETLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:43609926
- Cytoband
- 10q11.21
- HGVS
- NM_020975.6(RET):c.1880-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.