Variant (rsID / SNP)

rs138340204

rs138340204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCHS1. Location: chromosome 11, position 6,653,585. Clinical significance in the table: Likely benign.

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Reference-table entries

DCHS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:6653585
Cytoband: 11p15.4
HGVS: NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser)
Allele change: Missense_W1053S

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.