Variant (rsID / SNP)

rs34994230

rs34994230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSE. Location: chromosome 6, position 116,752,290. Clinical significance in the table: Benign.

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Reference-table entries

DSEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:116752290
Cytoband: 6q22.1
HGVS: NM_013352.4(DSE):c.844A>G (p.Ile282Val)
Allele change: Missense_I282V

Associated conditions / phenotypes

Ehlers-Danlos syndrome, musculocontractural type 2|Ehlers-Danlos 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.