Variant (rsID / SNP)

rs28942091

rs28942091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRELD1. Location: chromosome 3, position 9,985,136. Clinical significance in the table: Likely benign.

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Reference-table entries

CRELD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:9985136
Cytoband: 3p25.3
HGVS: NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys)
Allele change: Missense_R329C

Associated conditions / phenotypes

Atrioventricular septal defect, susceptibility to, 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.