Variant (rsID / SNP)

rs143039156

rs143039156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-6. Location: chromosome 8, position 23,560,484. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NKX2-6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:23560484
Cytoband: 8p21.2
HGVS: NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)
Allele change: Missense_A129E

Associated conditions / phenotypes

Conotruncal heart malformations

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.