Variant (rsID / SNP)
rs113994152
rs113994152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSEN54. Location: chromosome 17, position 73,518,081. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:73518081
- Cytoband
- 17q25.1
- HGVS
- NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
- Allele change
- Missense_A307S
Associated conditions / phenotypes
Pontocerebellar hypoplasia type 2A|Olivopontocerebellar hypoplasia|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 5|Congenital cerebellar hypoplasia|Global developmental delay|Microcephaly|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 4|Inborn genetic diseases|Global developmental delay|Amblyopia|Hypertonia|Pontoneocerebellar hypoplasia|Intellectual disability|Pontocerebellar hypoplasia type 5|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 2|Pontocerebellar hypoplasia type 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.