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Variant (rsID / SNP)

rs148115514

TTN

rs148115514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,616,481. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TTNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:179616481
Cytoband
2q31.2
HGVS
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
Allele change
Silent

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.