Details for DYSF:c.1120G>C, p.Val374Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7175341671526286
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DYSF
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_003494.3
CDNA CHANGE c.1120G>C
PROTEIN CHANGE p.Val374Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00140.00.0070.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0054890.0015380.0016190.00019840.00.0092390.008690.0050490.002548

ESP
AAEA
0.0029510.0107
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.23087Polymorphism
DBSNP ID rs150724610
1 combination linked to DYSF:c.1120G>C, p.Val374Leu OLI571
1 disease linked to DYSF:c.1120G>C, p.Val374Leu Limb-girdle muscular dystrophy
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