Variant (rsID / SNP)

rs75741316

rs75741316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,299,654. Clinical significance in the table: Benign.

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Reference-table entries

MCPH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:6299654
Cytoband: 8p23.1
HGVS: NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr)
Allele change: Missense_I216T

Associated conditions / phenotypes

Microcephaly 1, primary, autosomal recessive

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.