Variant (rsID / SNP)
rs61997174
rs61997174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,262,669. Clinical significance in the table: Benign.
Reference-table entries
FREM2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:39262669
- Cytoband
- 13q13.3
- HGVS
- NM_207361.6(FREM2):c.1188G>C (p.Gln396His)
- Allele change
- Missense_Q396H
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.