Variant (rsID / SNP)

rs112167630

rs112167630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEGF8. Location: chromosome 19, position 42,874,901. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MEGF8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:42874901
Cytoband: 19q13.2
HGVS: NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)
Allele change: Missense_V2285M

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.