Variant (rsID / SNP)

rs730882213

rs730882213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAT3, SCAMP4. Location: chromosome 19, position 1,912,476. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADAT3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:1912476
Cytoband: 19p13.3
HGVS: NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
Allele change: Missense_V144M

Associated conditions / phenotypes

Intellectual disability-strabismus 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.