Variant (rsID / SNP)

rs7367

rs7367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP4. Location: chromosome 19, position 41,129,842. Clinical significance in the table: Benign.

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Reference-table entries

LTBP4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:41129842
Cytoband: 19q13.2
HGVS: NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=)
Allele change: Missense_T1259I

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.