Variant (rsID / SNP)

rs377046630

rs377046630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRAS1. Location: chromosome 4, position 79,173,606. Clinical significance in the table: Pathogenic.

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Reference-table entries

FRAS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:79173606
Cytoband: 4q21.21
HGVS: NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)
Allele change: Nonsense_R124X

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.