Variant (rsID / SNP)

rs142074817

rs142074817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,522,655. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NEBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:152522655
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
Allele change: Synonymous_P1660P

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.