Variant (rsID / SNP)

rs768184220

rs768184220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,736,438. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CHD7Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:61736438
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)
Allele change: Missense_I1081F

Associated conditions / phenotypes

CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia

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.