Variant (rsID / SNP)

rs886041240

rs886041240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNAP29, PI4KA. Location: chromosome 22, position 21,213,400. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SNAP29Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:21213400
Cytoband: 22q11.21
HGVS: NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)
Allele change: Missense_M1T

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 2|CEDNIK 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.