Variant (rsID / SNP)

rs142820961

rs142820961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B3GALT6, SDF4. Location: chromosome 1, position 1,168,115. Clinical significance in the table: Benign.

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Reference-table entries

B3GALT6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:1168115
Cytoband: 1p36.33
HGVS: NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)
Allele change: Missense_L153I

Associated conditions / phenotypes

Ehlers-Danlos syndrome, spondylodysplastic type, 2|Spondyloepimetaphyseal dysplasia with joint laxity

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.