Variant (rsID / SNP)

rs180849348

rs180849348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG2, SEC61B. Location: chromosome 9, position 101,984,160. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:101984160
Cytoband: 9q22.33
HGVS: NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
Allele change: Missense_G6A

Associated conditions / phenotypes

ALG2-congenital disorder of glycosylation|Congenital myasthenic syndrome 14

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.