Variant (rsID / SNP)

rs77505745

rs77505745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG11, ATP7B. Location: chromosome 13, position 52,586,922. Clinical significance in the table: Likely benign.

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Reference-table entries

ALG11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:52586922
Cytoband: 13q14.3
HGVS: NM_001004127.3(ALG11):c.44+324T>C
Allele change: Silent

Associated conditions / phenotypes

ALG11-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.