Variant (rsID / SNP)

rs863225243

rs863225243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,908,023. Clinical significance in the table: Pathogenic.

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Reference-table entries

DIAPH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:140908023
Cytoband: 5q31.3
HGVS: NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)
Allele change: Nonsense_R1040X

Associated conditions / phenotypes

Progressive microcephaly-seizures-cortical blindness-developmental delay 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.