Variant (rsID / SNP)

rs77373295

rs77373295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC16A1. Location: chromosome 1, position 113,460,049. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC16A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:113460049
Cytoband: 1p13.2
HGVS: NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
Allele change: Missense_P327S

Associated conditions / phenotypes

Exercise-induced hyperinsulinism

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.