Details for GRN:c.1414G>C, p.Ala472Pro

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4242970944352341
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GRN
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_002087.4
CDNA CHANGE c.1414G>C
PROTEIN CHANGE p.Ala472Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.96135Disease causing
DBSNP ID NA
1 combination linked to GRN:c.1414G>C, p.Ala472Pro OLI1625
1 disease linked to GRN:c.1414G>C, p.Ala472Pro Amyotrophic lateral sclerosis
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