Variant (rsID / SNP)

rs2290145

rs2290145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCPH1. Location: chromosome 8, position 6,289,091. Clinical significance in the table: Likely benign.

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Reference-table entries

MCPH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:6289091
Cytoband: 8p23.1
HGVS: NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)
Allele change: Missense_S102T

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.