Variant (rsID / SNP)

rs150619347

rs150619347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARV1. Location: chromosome 1, position 231,124,186. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARV1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:231124186
Cytoband: 1q42.2
HGVS: NM_022786.3(ARV1):c.294+1G>A
Allele change: Silent

Associated conditions / phenotypes

ARV1-related condition|Developmental and epileptic encephalopathy, 38

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.