Variant (rsID / SNP)

rs138848935

rs138848935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFAP53. Location: chromosome 18, position 47,778,134. Clinical significance in the table: Benign.

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Reference-table entries

CFAP53Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:47778134
Cytoband: 18q21.1
HGVS: NM_145020.5(CFAP53):c.494G>A (p.Arg165His)
Allele change: Missense_R165H

Associated conditions / phenotypes

Heterotaxy, visceral, 6, autosomal

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.