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Variant (rsID / SNP)

rs142476892

B4GALT7

rs142476892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B4GALT7. Location: chromosome 5, position 177,031,406. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

B4GALT7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:177031406
Cytoband
5q35.3
HGVS
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
Allele change
Missense_H93Y

Associated conditions / phenotypes

Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome

Public references

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