Variant (rsID / SNP)

rs370667926

rs370667926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED23. Location: chromosome 6, position 131,924,270. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MED23Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:131924270
Cytoband: 6q23.2
HGVS: NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)
Allele change: Missense_R611Q

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 18

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.