Variant (rsID / SNP)

rs148111963

rs148111963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASNS. Location: chromosome 7, position 97,488,213. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ASNSLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:97488213
Cytoband: 7q21.3
HGVS: NM_001673.5(ASNS):c.728T>C (p.Val243Ala)
Allele change: Missense_V243A

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.