Variant (rsID / SNP)

rs61754648

rs61754648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HDAC4. Location: chromosome 2, position 240,011,722. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HDAC4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:240011722
Cytoband: 2q37.3
HGVS: NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
Allele change: Missense_A786T

Associated conditions / phenotypes

Chromosome 2q37 deletion 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.