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Variant (rsID / SNP)

rs121908257

CHST14

rs121908257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST14. Location: chromosome 15, position 40,764,050. 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
15:40764050
Cytoband
15q15.1
HGVS
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
Allele change
Missense_R213P

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.