Variant (rsID / SNP)

rs77187818

rs77187818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED23. Location: chromosome 6, position 131,914,232. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MED23Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:131914232
Cytoband: 6q23.2
HGVS: NM_004830.4(MED23):c.3312T>C (p.Ala1104=)
Allele change: Synonymous_A1104A

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.