• Atlas of Cardiac Genetic Variation
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•           Inherited Cardiac Conditions          
  • Hypertrophic Cardiomyopathy - HCM
  • Dilated Cardiomyopathy - DCM
  • Arrhythmogenic RV Cardiomyopathy - ARVC
• Gene Quick Link: 
• ABCC9ACTC1ACTN2ANK2ANKRD1CALR3CASQ2CAV3CRYABCSRP3CTF1DESDSC2DSG2DSPDTNAEMDFHL1FHL2FXNGLAJPH2JUPKCNE1KCNE2KCNH2KCNJ2KCNQ1KLF10LAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYL2MYL3MYLK2MYOM1MYOZ2MYPNNEXNOBSCNPDLIM3PKP2PLNPRKAG2RBM20RYR2SCN5ASGCDSRITAZTCAPTGFB3TMEM43TNNC1TNNI3TNNT2TPM1TRIM54TRIM55TRIM63TTNTTRVCL

DSP : c.1493C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1493C>T	p.P498L (Pro > Leu)	substitution	missense	chr6:7569492 (forward strand)	0.00002471

Effect in Cardiac Disease

This variant is considered a rare variant, with a population frequency of 0.00002471 (ExAC mean allelic frequency).

DCM	There is no significant excess of rare DSP Non-Truncating variants in DCM (details). OMGL: Detected in 0 / 304 DCM patients. LMM:   Detected in 0 / 123 DCM patients.
ARVC	Rare DSP Non-Truncating variants are significantly enriched in ARVC (details) and have an etiological fraction (EF) of 0.52.