Variant (rsID / SNP)

rs117273116

rs117273116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP4. Location: chromosome 19, position 41,115,500. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LTBP4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:41115500
Cytoband: 19q13.2
HGVS: NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=)
Allele change: Synonymous_R527R

Associated conditions / phenotypes

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

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.