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Variant (rsID / SNP)

rs745597204

FRAS1

rs745597204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRAS1. Location: chromosome 4, position 79,394,620. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FRAS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:79394620
Cytoband
4q21.21
HGVS
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
Allele change
Nonsense_Y2517X

Associated conditions / phenotypes

Fraser syndrome 1|Congenital anomaly of kidney and urinary tract

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.