Details for DISP1:c.3287T>C, p.Met1096Thr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
223178026223004684
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DISP1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_032890.3
CDNA CHANGE c.3287T>C
PROTEIN CHANGE p.Met1096Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00140.00.0060.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0060150.0012310.004540.013010.00.0049560.0088750.0081510.001241

ESP
AAEA
0.0013620.007558
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.023669Disease causing
DBSNP ID rs144673025
1 combination linked to DISP1:c.3287T>C, p.Met1096Thr OLI407
1 disease linked to DISP1:c.3287T>C, p.Met1096Thr Holoprosencephaly
Found any issues with the data on this page? Report this entry.