Variant (rsID / SNP)

rs147168910

rs147168910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,490,443. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NEBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:152490443
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.9139C>A (p.His3047Asn)
Allele change: Missense_H3047N

Associated conditions / phenotypes

Nemaline myopathy 2

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.