Variant (rsID / SNP)

rs180694107

rs180694107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,654,141. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TTNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:179654141
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)
Allele change: Missense_R674S

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.