Details for DCTN1:c.1843C>T, p.His615Tyr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7459448774367360
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DCTN1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001135041
CDNA CHANGE c.1843C>T
PROTEIN CHANGE p.His615Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging4.001872Polymorphism
DBSNP ID NA
1 combination linked to DCTN1:c.1843C>T, p.His615Tyr OLI953
1 disease linked to DCTN1:c.1843C>T, p.His615Tyr Amyotrophic lateral sclerosis
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