Details for DCTN1:c.3620T>C, p.Leu1207Pro

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7458925874362131
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE DCTN1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_004082.5
CDNA CHANGE c.3620T>C
PROTEIN CHANGE p.Leu1207Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.742174Polymorphism
DBSNP ID NA
1 combination linked to DCTN1:c.3620T>C, p.Leu1207Pro OLI784
1 disease linked to DCTN1:c.3620T>C, p.Leu1207Pro Amyotrophic lateral sclerosis
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