Variant (rsID / SNP)

rs189892751

rs189892751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRCAP. Location: chromosome 16, position 30,735,751. Clinical significance in the table: Benign.

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Reference-table entries

SRCAPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:30735751
Cytoband: 16p11.2
HGVS: NM_006662.3(SRCAP):c.5006C>T (p.Pro1669Leu)
Allele change: Missense_P1669L

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.