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Variant (rsID / SNP)

rs28941780

CRELD1

rs28941780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRELD1. Location: chromosome 3, position 9,979,308. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRELD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:9979308
Cytoband
3p25.3
HGVS
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)
Allele change
Missense_R107H

Associated conditions / phenotypes

Atrioventricular septal defect, partial, with heterotaxy syndrome|Atrioventricular septal defect, susceptibility to, 2

Public references

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