Variant (rsID / SNP)

rs61753669

rs61753669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGT. Location: chromosome 20, position 44,048,972. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PIGTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:44048972
Cytoband: 20q13.12
HGVS: NM_015937.6(PIGT):c.770A>C (p.Asp257Ala)
Allele change: Silent

Associated conditions / phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 3

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.