Details for TANC1:c.2830C>T, p.His944Tyr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
160050855159194344
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TANC1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_033394.2
CDNA CHANGE c.2830C>T
PROTEIN CHANGE p.His944Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.209e-050.00012910.00.00.00.09.71e-050.00.0

ESP
AAEA
0.00024110.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.818146Disease causing
DBSNP ID rs374498239
1 combination linked to TANC1:c.2830C>T, p.His944Tyr OLI798
1 disease linked to TANC1:c.2830C>T, p.His944Tyr Arthrogryposis syndrome
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