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Variant (rsID / SNP)

rs794727423

CHD7

rs794727423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,763,035. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CHD7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:61763035
Cytoband
8q12.2
HGVS
NM_017780.4(CHD7):c.5405-17G>A
Allele change
Silent

Associated conditions / phenotypes

CHARGE association|Inborn genetic diseases|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.