Variant (rsID / SNP)

rs73419464

rs73419464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 107,204,371. Clinical significance in the table: Benign.

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Reference-table entries

COG5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:107204371
Cytoband: 7q22.3
HGVS: NG_028095.1(COG5):g.5589G>A
Allele change: Missense_A22T

Associated conditions / phenotypes

COG5-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.