Details for GLDC:c.2203G>T, p.Val735Leu

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
65547816554781
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GLDC
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000170.2
CDNA CHANGE c.2203G>T
PROTEIN CHANGE p.Val735Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00440.00.0130.00.01190.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0064230.0011480.0021720.00010090.00011020.038650.00560.0063460.0001699

ESP
AAEA
0.0013620.002907
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign4.512973Disease causing
DBSNP ID rs143119940
2 combinations linked to GLDC:c.2203G>T, p.Val735Leu OLI709; OLI760
1 disease linked to GLDC:c.2203G>T, p.Val735Leu Isolated anencephaly
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