Variant (rsID / SNP)

rs149995364

rs149995364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNXB. Location: chromosome 6, position 32,052,216. Clinical significance in the table: Benign.

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Reference-table entries

TNXBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32052216
Cytoband: 6p21.33
HGVS: NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp)
Allele change: Missense_G1140D

Associated conditions / phenotypes

Ehlers-Danlos syndrome

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.