Details for TULP3:c.1310G>C, p.Ser437Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
30485912939425
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TULP3
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_003324.5
CDNA CHANGE c.1310G>C
PROTEIN CHANGE p.Ser437Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00019496.152e-050.00037590.00.00.00.00027270.00065170.0

ESP
AAEA
0.0002270.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign4.093195None
DBSNP ID rs140769882
1 combination linked to TULP3:c.1310G>C, p.Ser437Thr OLI687
1 disease linked to TULP3:c.1310G>C, p.Ser437Thr Holoprosencephaly
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