Variant (rsID / SNP)

rs869320675

rs869320675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYT1L. Location: chromosome 2, position 1,891,259. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYT1LPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:1891259
Cytoband: 2p25.3
HGVS: NM_001303052.2(MYT1L):c.2642+1G>A
Allele change: Silent

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 39

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.