Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs751726519

CHD7

rs751726519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,742,971. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHD7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:61742971
Cytoband
8q12.2
HGVS
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
Allele change
Missense_I1205V

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 5 with or without anosmia|CHARGE association

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.