Variant (rsID / SNP)

rs145035489

rs145035489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRAS1. Location: chromosome 4, position 79,461,844. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FRAS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:79461844
Cytoband: 4q21.21
HGVS: NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
Allele change: Missense_I3869V

Associated conditions / phenotypes

Fraser syndrome 1

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.