Variant (rsID / SNP)

rs707577

rs707577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGT. Location: chromosome 20, position 44,054,349. Clinical significance in the table: Benign.

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Reference-table entries

PIGTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:44054349
Cytoband: 20q13.12
HGVS: NM_015937.6(PIGT):c.1620T>C (p.Tyr540=)
Allele change: Silent

Associated conditions / phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 3|Paroxysmal nocturnal hemoglobinuria 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.