Details for GARS1:c.2171C>A, p.Pro724His

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3067342730633811
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GARS1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_002047
CDNA CHANGE c.2171C>A
PROTEIN CHANGE p.Pro724His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.863483Disease causing
DBSNP ID NA
1 combination linked to GARS1:c.2171C>A, p.Pro724His OLI949
1 disease linked to GARS1:c.2171C>A, p.Pro724His Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.