Variant (rsID / SNP)

rs184898622

rs184898622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN34. Location: chromosome 19, position 54,695,254. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TSEN34Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:54695254
Cytoband: 19q13.42
HGVS: NM_001077446.4(TSEN34):c.39G>A (p.Val13=)
Allele change: Synonymous_V16V

Associated conditions / phenotypes

Pontoneocerebellar hypoplasia

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.