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Variant (rsID / SNP)

rs104894655

TCAP

rs104894655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP. Location: chromosome 17, position 37,822,015. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TCAPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:37822015
Cytoband
17q12
HGVS
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
Allele change
Nonsense_Q53X

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2G|Hypertrophic cardiomyopathy 25|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy

Public references

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