Variant (rsID / SNP)
rs142970891
rs142970891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG5. Location: chromosome 7, position 106,888,918. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COG5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:106888918
- Cytoband
- 7q22.3
- HGVS
- NM_006348.5(COG5):c.1776T>C (p.Ala592=)
- Allele change
- Synonymous_A623A
Associated conditions / phenotypes
COG5-congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.