Variant (rsID / SNP)

rs587777698

rs587777698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C12ORF57, C12orf57, PTPN6. Location: chromosome 12, position 7,053,770. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

C12ORF57Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:7053770
Cytoband: 12p13.31
HGVS: NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)
Allele change: Nonsense_Q49X

Associated conditions / phenotypes

Temtamy 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.