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Variant (rsID / SNP)

rs193036129

DIAPH1

rs193036129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,955,835. 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
single nucleotide variant
Chromosome / position
5:140955835
Cytoband
5q31.3
HGVS
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)
Allele change
Missense_E466K

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 1|Autosomal dominant nonsyndromic hearing loss 1|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.