Details for TPM2:c.620_631dup, p.Gln210_Ala211insValGluAlaGln

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
3568473635684739
VARIANT EFFECT insertion
ANNOTATION FLAG manually_corrected
GENE TPM2
REFERENCE ALLELE G
ALTERNATE ALLELE GCCTGGGCCTCCA
TRANSCRIPT NM_003289.4
CDNA CHANGE c.620_631dup
PROTEIN CHANGE p.Gln210_Ala211insValGluAlaGln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.796759Disease causing
DBSNP ID rs1587956195
1 combination linked to TPM2:c.620_631dup, p.Gln210_Ala211insValGluAlaGln OLI799
1 disease linked to TPM2:c.620_631dup, p.Gln210_Ala211insValGluAlaGln Arthrogryposis syndrome
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