Variant (rsID / SNP)

rs869025287

rs869025287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MED13L. Location: chromosome 12, position 116,406,845. Clinical significance in the table: Pathogenic.

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Reference-table entries

MED13LPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:116406845
Cytoband: 12q24.21
HGVS: NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)

Associated conditions / phenotypes

Cardiac anomalies - developmental delay - facial dysmorphism syndrome|Intellectual disability

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.