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Variant (rsID / SNP)

rs587776954

C12ORF57C12orf57

rs587776954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C12ORF57, C12orf57. Location: chromosome 12, position 7,053,285. 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
12:7053285
Cytoband
12p13.31
HGVS
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
Allele change
Silent

Associated conditions / phenotypes

Temtamy syndrome|Abnormal corpus callosum morphology|Global developmental delay|Seizure|Microphthalmia, isolated, with coloboma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.