Variant (rsID / SNP)

rs147332320

rs147332320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRAS1. Location: chromosome 4, position 79,176,444. Clinical significance in the table: Benign.

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Reference-table entries

FRAS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:79176444
Cytoband: 4q21.21
HGVS: NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln)
Allele change: Missense_R173Q

Associated conditions / phenotypes

Fraser syndrome 1

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.