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Variant (rsID / SNP)

rs201979610

NEB

rs201979610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,385,774. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:152385774
Cytoband
2q23.3
HGVS
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
Allele change
Missense_D7229H

Associated conditions / phenotypes

Nemaline myopathy 2

Public references

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