Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs184081055

DIAPH1

rs184081055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,966,692. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DIAPH1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
5:140966692
Cytoband
5q31.3
HGVS
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr)
Allele change
Missense_A64T

Associated conditions / phenotypes

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

Public references

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