Variant (rsID / SNP)

rs189149543

rs189149543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,640,550. Clinical significance in the table: Benign.

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Reference-table entries

TTNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:179640550
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)
Allele change: Missense_T2014I

Associated conditions / phenotypes

Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J

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.