Variant (rsID / SNP)

rs150857828

rs150857828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CORO1A. Location: chromosome 16, position 30,199,713. Clinical significance in the table: Benign.

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Reference-table entries

CORO1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:30199713
Cytoband: 16p11.2
HGVS: NM_007074.4(CORO1A):c.1097C>A (p.Pro366His)
Allele change: Missense_P366H

Associated conditions / phenotypes

Severe combined immunodeficiency due to CORO1A deficiency

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.