Variant (rsID / SNP)

rs201658767

rs201658767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRCAP. Location: chromosome 16, position 30,733,572. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SRCAPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:30733572
Cytoband: 16p11.2
HGVS: NM_006662.3(SRCAP):c.3671G>A (p.Arg1224His)
Allele change: Missense_R1224H

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.