Variant (rsID / SNP)

rs146918812

rs146918812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG7. Location: chromosome 16, position 23,464,230. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COG7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:23464230
Cytoband: 16p12.2
HGVS: NM_153603.4(COG7):c.86C>T (p.Ala29Val)
Allele change: Missense_A29V

Associated conditions / phenotypes

COG7 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.