Variant (rsID / SNP)

rs878854417

rs878854417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HECW2. Location: chromosome 2, position 197,090,524. Clinical significance in the table: Pathogenic.

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Reference-table entries

HECW2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:197090524
Cytoband: 2q32.3
HGVS: NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)
Allele change: Missense_R1330W

Associated conditions / phenotypes

Neurodevelopmental disorder with hypotonia, seizures, and absent language|Inborn genetic diseases|HECW2-Related Disorder

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.