Variant (rsID / SNP)

rs121908258

rs121908258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST14. Location: chromosome 15, position 40,764,290. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CHST14Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:40764290
Cytoband: 15q15.1
HGVS: NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
Allele change: Missense_Y293C

Associated conditions / phenotypes

Ehlers-Danlos syndrome, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type 1

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.