Variant (rsID / SNP)

rs886040995

rs886040995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,765,241. 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: 8:61765241
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
Allele change: Nonsense_R2027X

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.