Variant (rsID / SNP)

rs149858290

rs149858290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHKB. Location: chromosome 22, position 51,019,001. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHKBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:51019001
Cytoband: 22q13.33
HGVS: NM_005198.5(CHKB):c.670A>C (p.Asn224His)
Allele change: Silent

Associated conditions / phenotypes

Megaconial type congenital muscular dystrophy

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.