Variant (rsID / SNP)

rs61731477

rs61731477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D24. Location: chromosome 16, position 2,549,411. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TBC1D24Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:2549411
Cytoband: 16p13.3
HGVS: NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
Allele change: Missense_T399M

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Autosomal dominant nonsyndromic hearing loss 65

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.