Variant (rsID / SNP)

rs267606727

rs267606727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST14. Location: chromosome 15, position 40,763,815. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

CHST14Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 15:40763815
Cytoband: 15q15.1
HGVS: NM_130468.4(CHST14):c.403C>G (p.Arg135Gly)
Allele change: Missense_R135G

Associated conditions / phenotypes

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.