Variant (rsID / SNP)

rs150379789

rs150379789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC24A5, MYEF2. Location: chromosome 15, position 48,426,500. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC24A5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:48426500
Cytoband: 15q21.1
HGVS: NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly)
Allele change: Missense_A116G

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.