Details for B4GAT1:c.355C>A, p.Pro119Thr

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6611466266347191
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE B4GAT1
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_006876.2
CDNA CHANGE c.355C>A
PROTEIN CHANGE p.Pro119Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00018160.00.00.00.0024890.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.756257Disease causing
DBSNP ID rs201892419
1 combination linked to B4GAT1:c.355C>A, p.Pro119Thr OLI909
1 disease linked to B4GAT1:c.355C>A, p.Pro119Thr Normosmic congenital hypogonadotropic hypogonadism
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