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Variant (rsID / SNP)

rs141243126

DCHS1

rs141243126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCHS1. Location: chromosome 11, position 6,644,643. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DCHS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6644643
Cytoband
11p15.4
HGVS
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
Allele change
Missense_R2755H

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.