Variant (rsID / SNP)

rs1567047

rs1567047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAT4. Location: chromosome 4, position 126,372,742. Clinical significance in the table: Benign.

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Reference-table entries

FAT4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:126372742
Cytoband: 4q28.1
HGVS: NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp)
Allele change: Missense_G3524D

Associated conditions / phenotypes

Van Maldergem syndrome 2|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.