Variant (rsID / SNP)

rs121434338

rs121434338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,735,186. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHD7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:61735186
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
Allele change: Missense_I1028V

Associated conditions / phenotypes

CHARGE association|Hypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association|Hypogonadotropic hypogonadism

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.