Variant (rsID / SNP)

rs78916708

rs78916708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG12. Location: chromosome 22, position 50,304,069. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:50304069
Cytoband: 22q13.33
HGVS: NM_024105.4(ALG12):c.469+13C>T
Allele change: Silent

Associated conditions / phenotypes

ALG12-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.