Variant (rsID / SNP)

rs113068438

rs113068438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA5. Location: chromosome 20, position 61,050,570. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GATA5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:61050570
Cytoband: 20q13.33
HGVS: NM_080473.5(GATA5):c.8A>G (p.Gln3Arg)
Allele change: Missense_Q3R

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection

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.