Variant (rsID / SNP)

rs76175818

rs76175818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM12. Location: chromosome 9, position 133,556,807. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRDM12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:133556807
Cytoband: 9q34.12
HGVS: NM_021619.3(PRDM12):c.855G>A (p.Thr285=)
Allele change: Synonymous_T285T

Associated conditions / phenotypes

Congenital insensitivity to pain-hypohidrosis syndrome

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.