Variant (rsID / SNP)

rs786205680

rs786205680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AFF4. Location: chromosome 5, position 132,269,985. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AFF4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:132269985
Cytoband: 5q31.1
HGVS: NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)
Allele change: Missense_R258W

Associated conditions / phenotypes

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

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.