Variant (rsID / SNP)

rs144814374

rs144814374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COG7. Location: chromosome 16, position 23,400,271. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COG7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:23400271
Cytoband: 16p12.2
HGVS: NM_153603.4(COG7):c.2283C>T (p.Thr761=)
Allele change: Synonymous_T761T

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.