Variant (rsID / SNP)

rs199614124

rs199614124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,765,637. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHD7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:61765637
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
Allele change: Missense_N2118S

Associated conditions / phenotypes

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

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.