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Variant (rsID / SNP)

rs145727304

CTCF

rs145727304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTCF. Location: chromosome 16, position 67,670,682. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CTCFBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:67670682
Cytoband
16q22.1
HGVS
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
Allele change
Missense_P643S

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.