Details for AMBRA1:c.1244G>A, p.Arg415His

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
4656405346542503
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE AMBRA1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001267782.2
CDNA CHANGE c.1244G>A
PROTEIN CHANGE p.Arg415His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00080.00.00.0010.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0013910.00018460.00080950.00079380.00.00014240.0017410.0011410.003332

ESP
AAEA
0.00.001279
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.872045Polymorphism
DBSNP ID rs145466300
1 combination linked to AMBRA1:c.1244G>A, p.Arg415His OLI761
1 disease linked to AMBRA1:c.1244G>A, p.Arg415His Craniorachischisis
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