Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200828005

FAT1

rs200828005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAT1. Location: chromosome 4, position 187,549,905. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FAT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:187549905
Cytoband
4q35.2
HGVS
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)
Allele change
Missense_V1446I

Associated conditions / phenotypes

Irido-corneo-trabecular dysgenesis|Anophthalmia-microphthalmia syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.