Variant (rsID / SNP)

rs148072021

rs148072021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTN. Location: chromosome 2, position 179,588,843. 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: 2:179588843
Cytoband: 2q31.2
HGVS: NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
Allele change: Missense_R6731Q

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.