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Variant (rsID / SNP)

rs878854416

HECW2

rs878854416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HECW2. Location: chromosome 2, position 197,106,886. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HECW2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:197106886
Cytoband
2q32.3
HGVS
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)
Allele change
Missense_R1191Q

Associated conditions / phenotypes

Neurodevelopmental disorder with hypotonia, seizures, and absent language|Inborn genetic diseases

Public references

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