Variant (rsID / SNP)

rs121434355

rs121434355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,358,846. Clinical significance in the table: Pathogenic.

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Reference-table entries

FREM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:39358846
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys)
Allele change: Missense_E1974K

Associated conditions / phenotypes

Fraser syndrome 2

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.