Variant (rsID / SNP)

rs45623135

rs45623135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF8. Location: chromosome 19, position 42,879,810. Clinical significance in the table: Likely benign.

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Reference-table entries

MEGF8Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:42879810
Cytoband: 19q13.2
HGVS: NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His)
Allele change: Missense_R2407H

Associated conditions / phenotypes

MEGF8-related Carpenter 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.