Variant (rsID / SNP)

rs4804151

rs4804151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK6. Location: chromosome 19, position 11,327,608. Clinical significance in the table: Benign.

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Reference-table entries

DOCK6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:11327608
Cytoband: 19p13.2
HGVS: NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=)
Allele change: Synonymous_L1292L

Associated conditions / phenotypes

Adams-Oliver syndrome 2

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.