Variant (rsID / SNP)

rs201420492

rs201420492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,029,801. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CC2D1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:14029801
Cytoband: 19p13.12
HGVS: NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His)
Allele change: Missense_Q365H

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3

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.