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Variant (rsID / SNP)

rs200346497

FRAS1

rs200346497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRAS1. Location: chromosome 4, position 79,428,622. 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
4:79428622
Cytoband
4q21.21
HGVS
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
Allele change
Missense_R3122W

Associated conditions / phenotypes

Anophthalmia-microphthalmia syndrome|Fraser syndrome 1

Public references

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