Variant (rsID / SNP)
rs41292753
rs41292753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,263,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FREM2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:39263609
- Cytoband
- 13q13.3
- HGVS
- NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
- Allele change
- Missense_R710C
Associated conditions / phenotypes
Fraser syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.