Variant (rsID / SNP)

rs5744539

rs5744539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CERT1. Location: chromosome 5, position 74,807,116. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CERT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:74807116
Cytoband: 5q13.3
HGVS: NM_001379029.1(CERT1):c.-84G>A
Allele change: Missense_D101N

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.