Variant (rsID / SNP)

rs187751757

rs187751757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,778,238. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHD7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:61778238
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)
Allele change: Missense_G2914R

Associated conditions / phenotypes

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

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.