Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200719359

NEB

rs200719359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,580,847. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NEBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:152580847
Cytoband
2q23.3
HGVS
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
Allele change
Missense_K180R

Associated conditions / phenotypes

Nemaline myopathy 2|Arthrogryposis multiplex congenita 6

Public references

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