Variant (rsID / SNP)

rs79144888

rs79144888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG3. Location: chromosome 3, position 183,960,348. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:183960348
Cytoband: 3q27.1
HGVS: NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)
Allele change: Missense_P376L

Associated conditions / phenotypes

ALG3-congenital disorder of glycosylation

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.