Details for ALMS1:c.11638C>T, p.His3880Tyr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7382662173599494
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ALMS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015120.4
CDNA CHANGE c.11638C>T
PROTEIN CHANGE p.His3880Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0020.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0009640.00025838.691e-050.00.00.00027970.0017810.00082730.0006865

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.936841Polymorphism
DBSNP ID NA
1 combination linked to ALMS1:c.11638C>T, p.His3880Tyr OLI1442
1 disease linked to ALMS1:c.11638C>T, p.His3880Tyr Bardet-Biedl syndrome
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