Variant (rsID / SNP)

rs72646837

rs72646837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,458,850. Clinical significance in the table: Pathogenic.

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Reference-table entries

TTNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:179458850
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
Allele change: Silent

Associated conditions / phenotypes

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

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.