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Variant (rsID / SNP)

rs528130317

CHD7

rs528130317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,764,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHD7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:61764609
Cytoband
8q12.2
HGVS
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
Allele change
Synonymous_G1899G

Associated conditions / phenotypes

CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia

Public references

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