Variant (rsID / SNP)

rs145639192

rs145639192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAT4. Location: chromosome 4, position 126,320,038. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FAT4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:126320038
Cytoband: 4q28.1
HGVS: NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
Allele change: Missense_I1759V

Associated conditions / phenotypes

Hennekam lymphangiectasia-lymphedema 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.