Details for FBN2:c.4094G>C, p.Cys1365Ser

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
127670416128334724
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FBN2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001999.3
CDNA CHANGE c.4094G>C
PROTEIN CHANGE p.Cys1365Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.947581Disease causing
DBSNP ID rs1581223610
2 combinations linked to FBN2:c.4094G>C, p.Cys1365Ser OLI794; OLI795
1 disease linked to FBN2:c.4094G>C, p.Cys1365Ser Arthrogryposis syndrome
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