Variant (rsID / SNP)

rs144947610

rs144947610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKRD11, TRAPPC2L. Location: chromosome 16, position 89,371,704. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANKRD11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:89371704
Cytoband: 16q24.3
HGVS: NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
Allele change: Missense_D46N

Associated conditions / phenotypes

Autism spectrum disorder|Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis|KBG 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.