Variant (rsID / SNP)

rs144738703

rs144738703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPF31. Location: chromosome 19, position 54,627,215. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRPF31Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:54627215
Cytoband: 19q13.42
HGVS: NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter)
Allele change: Synonymous_Y205Y

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.