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Variant (rsID / SNP)

rs139366969

PIGT

rs139366969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGT. Location: chromosome 20, position 44,050,056. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIGTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:44050056
Cytoband
20q13.12
HGVS
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln)
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.