Details for FBLN2:c.385G>A, p.Asp129Asn

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
1361224013570740
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FBLN2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001998.2
CDNA CHANGE c.385G>A
PROTEIN CHANGE p.Asp129Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00430.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.928e-050.00.00012050.00.00.02.907e-050.00017763.455e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.534326Disease causing
DBSNP ID rs533268036
1 combination linked to FBLN2:c.385G>A, p.Asp129Asn OLI574
1 disease linked to FBLN2:c.385G>A, p.Asp129Asn Disorder of sex development
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