Variant (rsID / SNP)

rs879255516

rs879255516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTCF. Location: chromosome 16, position 67,662,453. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTCFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:67662453
Cytoband: 16q22.1
HGVS: NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
Allele change: Missense_R567W

Associated conditions / phenotypes

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome|CTCF-related syndromic intellectual disability

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.