Variant (rsID / SNP)

rs144853134

rs144853134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS12. Location: chromosome 4, position 119,273,825. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRSS12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:119273825
Cytoband: 4q26
HGVS: NM_003619.4(PRSS12):c.51A>G (p.Glu17=)
Allele change: Synonymous_E17E

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 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.