Variant (rsID / SNP)

rs189313778

rs189313778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC10A1. Location: chromosome 14, position 70,245,116. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC10A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:70245116
Cytoband: 14q24.1
HGVS: NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu)
Allele change: Missense_Q293E

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.