Variant (rsID / SNP)

rs121917817

rs121917817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to B4GALT7. Location: chromosome 5, position 177,034,446. Clinical significance in the table: Pathogenic.

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Reference-table entries

B4GALT7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:177034446
Cytoband: 5q35.3
HGVS: NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)
Allele change: Missense_A186D

Associated conditions / phenotypes

Ehlers-Danlos syndrome progeroid type

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.