Details for RIMS1:c.3136delA, p.Lys1046LysfsTer32

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
7297469672264993
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE RIMS1
REFERENCE ALLELE TA
ALTERNATE ALLELE T
TRANSCRIPT NM_014989.5
CDNA CHANGE c.3136delA
PROTEIN CHANGE p.Lys1046LysfsTer32
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00021490.00.00.00.0028980.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.433783Disease causing
DBSNP ID rs587783021
1 combination linked to RIMS1:c.3136delA, p.Lys1046LysfsTer32 OLI449
1 disease linked to RIMS1:c.3136delA, p.Lys1046LysfsTer32 Retinitis pigmentosa
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