Variant (rsID / SNP)

rs758147990

rs758147990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,175,385. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:117175385
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.663G>A (p.Ala221=)
Allele change: Synonymous_A221A

Associated conditions / phenotypes

Inborn genetic diseases|Cystic fibrosis|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.