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Variant (rsID / SNP)

rs61978638

CHD7

rs61978638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,714,146. 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
8:61714146
Cytoband
8q12.2
HGVS
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
Allele change
Missense_K812N

Associated conditions / phenotypes

History of neurodevelopmental disorder|Hypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|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.