Variant (rsID / SNP)

rs142480526

rs142480526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,966,709. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DIAPH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:140966709
Cytoband: 5q31.3
HGVS: NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val)
Allele change: Missense_A58V

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

dbSNP
ClinVar
Ensembl
gnomAD

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