Variant (rsID / SNP)

rs61742801

rs61742801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD7. Location: chromosome 8, position 61,769,429. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHD7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:61769429
Cytoband: 8q12.2
HGVS: NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
Allele change: Synonymous_K2530K

Associated conditions / phenotypes

CHARGE association|History of neurodevelopmental disorder

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.