Variant (rsID / SNP)

rs199469464

rs199469464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRCAP. Location: chromosome 16, position 30,748,691. Clinical significance in the table: Pathogenic.

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Reference-table entries

SRCAPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:30748691
Cytoband: 16p11.2
HGVS: NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
Allele change: Nonsense_R2444X

Associated conditions / phenotypes

Floating-Harbor syndrome|Inborn genetic diseases|See cases|Neurodevelopmental delay

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.