Variant (rsID / SNP)

rs138641014

rs138641014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK2. Location: chromosome 4, position 114,232,454. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:114232454
Cytoband: 4q26
HGVS: NM_001148.6(ANK2):c.2592T>C (p.Pro864=)
Allele change: Synonymous_P794P

Associated conditions / phenotypes

Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia, ankyrin-B-related

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.