Variant (rsID / SNP)

rs864622455

rs864622455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,757,487. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHD7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 8:61757487
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer)

Associated conditions / phenotypes

CHARGE association

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.