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Variant (rsID / SNP)

rs150331261

CEP135

rs150331261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP135. Location: chromosome 4, position 56,825,871. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CEP135Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
4:56825871
Cytoband
4q12
HGVS
NM_025009.5(CEP135):c.638T>C (p.Val213Ala)
Allele change
Missense_V213A

Associated conditions / phenotypes

Microcephaly 8, primary, autosomal recessive

Public references

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