Variant (rsID / SNP)

rs147489278

rs147489278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBCE. Location: chromosome 1, position 235,577,753. Clinical significance in the table: Likely benign.

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Reference-table entries

TBCELikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:235577753
Cytoband: 1q42.3
HGVS: NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)
Allele change: Missense_P64L

Associated conditions / phenotypes

Hypoparathyroidism-retardation-dysmorphism syndrome

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.