Variant (rsID / SNP)
rs80158178
rs80158178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGT. Location: chromosome 20, position 44,047,974. Clinical significance in the table: Benign.
Reference-table entries
PIGTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:44047974
- Cytoband
- 20q13.12
- HGVS
- NM_015937.6(PIGT):c.533G>A (p.Arg178Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.