Variant (rsID / SNP)

rs143739249

rs143739249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAMBP. Location: chromosome 2, position 74,058,095. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

STAMBPPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:74058095
Cytoband: 2p13.1
HGVS: NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
Allele change: Silent

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.