Variant (rsID / SNP)

rs878854422

rs878854422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HECW2. Location: chromosome 2, position 197,106,881. 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: 2:197106881
Cytoband: 2q32.3
HGVS: NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val)
Allele change: Missense_F1193V

Associated conditions / phenotypes

Neurodevelopmental disorder with hypotonia, seizures, and absent language

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.