Variant (rsID / SNP)

rs142672241

rs142672241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC27A5. Location: chromosome 19, position 59,012,675. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC27A5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:59012675
Cytoband: 19q13.43
HGVS: NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
Allele change: Missense_R303Q

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.