Variant (rsID / SNP)

rs74781600

rs74781600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,266,382. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FREM2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:39266382
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met)
Allele change: Missense_T1634M

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.