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Variant (rsID / SNP)

rs201506104

TTN

rs201506104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,604,870. 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
2:179604870
Cytoband
2q31.2
HGVS
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
Allele change
Missense_V4047M

Public references

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