Variant (rsID / SNP)

rs968404

rs968404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA1. Location: chromosome 7, position 130,022,041. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:130022041
Cytoband: 7q32.2
HGVS: NM_001868.4(CPA1):c.474C>T (p.Tyr158=)
Allele change: Synonymous_Y158Y

Associated conditions / phenotypes

Inborn genetic diseases

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.