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Variant (rsID / SNP)

rs201457616

FREM2

rs201457616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,263,084. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FREM2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:39263084
Cytoband
13q13.3
HGVS
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys)
Allele change
Missense_R535C

Associated conditions / phenotypes

Fraser syndrome 2|Microcephaly

Public references

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