Variant (rsID / SNP)

rs397509390

rs397509390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAMBP. Location: chromosome 2, position 74,089,381. Clinical significance in the table: Pathogenic.

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Reference-table entries

STAMBPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:74089381
Cytoband: 2p13.1
HGVS: NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)
Allele change: Nonsense_R289X

Associated conditions / phenotypes

Microcephaly-capillary malformation 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.