Variant (rsID / SNP)

rs398122974

rs398122974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASNS. Location: chromosome 7, position 97,481,609. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASNSPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:97481609
Cytoband: 7q21.3
HGVS: NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)
Allele change: Missense_R550C

Associated conditions / phenotypes

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

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.