Gene entry
DIAPH1
diaphanous related formin 1
- Chromosome
- 5
- Cytoband
- 5q31.3
- Variants (rsID)
- 26
DIAPH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.3). Its official name is “diaphanous related formin 1”. The reference table lists 26 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs142480526Benignsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 1|Autosomal dominant nonsyndromic hearing loss 1|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- rs2302102Benignsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 1|Autosomal dominant nonsyndromic hearing loss 1|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- rs193036129Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 1|Autosomal dominant nonsyndromic hearing loss 1|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- rs555848272Conflicting interpretationsDeletionNonsyndromic Hearing Loss, Mixed|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1
- rs863225243Pathogenicsingle nucleotide variantProgressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- rs876657776Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal dominant nonsyndromic hearing loss 1
- rs184081055Uncertain significancesingle nucleotide variantProgressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1|Autosomal dominant nonsyndromic hearing loss 1
- rs200220260Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.