Variant (rsID / SNP)

rs2659871

rs2659871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCHS1. Location: chromosome 11, position 6,652,618. Clinical significance in the table: Benign.

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Reference-table entries

DCHS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:6652618
Cytoband: 11p15.4
HGVS: NM_003737.4(DCHS1):c.3696G>A (p.Pro1232=)
Allele change: Synonymous_P1232P

Associated conditions / phenotypes

Van Maldergem syndrome 1

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.