GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TCIRG1 R56Wuncertain benign, f=0.044unknown

Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS000005532
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
TCIRG1 Q121Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
TCIRG1 L122Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
TCIRG1 H123Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
TCIRG1 G159Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
TCIRG1 L257Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
TCIRG1 Q259Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
TCIRG1 S272Ninsufficiently evaluated not reviewedunknown

(1 web hit)

TCIRG1 R276Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
TCIRG1 P356Linsufficiently evaluated not reviewedunknown
TCIRG1 M403Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
TCIRG1 G405Rinsufficiently evaluated pathogenicunknown

(23 web hits)

TCIRG1 R444Linsufficiently evaluated pathogenicunknown

(24 web hits)

TCIRG1 C464Xinsufficiently evaluated pathogenicunknown

(4 web hits)

TCIRG1 S488Ninsufficiently evaluated not reviewedunknown
TCIRG1 V558Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
TCIRG1 P572Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
TCIRG1 A610Tinsufficiently evaluated noneunknown
TCIRG1 G763GLGinsufficiently evaluated not reviewed, f=0.016unknown var-GS19834-1100-36-ASM
var-GS19026-1100-36-ASM
TCIRG1 A826Tinsufficiently evaluated none, f=0.007unknown var-GS19129-1100-36-ASM
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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