Variant (rsID / SNP)

rs397508510

rs397508510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,655. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117251655
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
Allele change: Missense_H1054D

Associated conditions / phenotypes

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.