Variant (rsID / SNP)

rs371450118

rs371450118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IQSEC2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IQSEC2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
Allele change: Synonymous_G1330G

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, X-linked 1

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.