Variant (rsID / SNP)

rs555848272

rs555848272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,963,679. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DIAPH1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 5:140963679
Cytoband: 5q31.3
HGVS: NM_005219.5(DIAPH1):c.402+12del

Associated conditions / phenotypes

Nonsyndromic Hearing Loss, Mixed|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1

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.