Variant (rsID / SNP)

rs3749442

rs3749442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC5. Location: chromosome 3, position 183,660,585. The table records no clinical significance for this variant.

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Reference-table entries

ABCC5Not classified

Variant type: synonymous_variant
Chromosome / position: 3:183660585
HGVS: NM_005688.4,c.3624C>T,p.Leu1208Leu
Allele change: Synonymous_L736L

Associated conditions / phenotypes

Epilepsy

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.