Variant (rsID / SNP)

rs61752057

rs61752057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHD6. Location: chromosome 20, position 40,040,870. Clinical significance in the table: Benign.

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Reference-table entries

CHD6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:40040870
Cytoband: 20q12
HGVS: NM_032221.5(CHD6):c.7165C>T (p.Arg2389Cys)
Allele change: Missense_R2389C

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.