Variant (rsID / SNP)

rs149258999

rs149258999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKCSH. Location: chromosome 19, position 11,547,212. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRKCSHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:11547212
Cytoband: 19p13.2
HGVS: NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr)
Allele change: Missense_H28Y

Associated conditions / phenotypes

Polycystic liver disease 1

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.