Variant (rsID / SNP)

rs386134230

rs386134230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,246,728. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117246728
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
Allele change: Missense_G970D

Associated conditions / phenotypes

Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders

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.