GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL9A2 L11Finsufficiently evaluated none, f=0.003unknown

(3 web hits)

COL9A2 M182Vinsufficiently evaluated not reviewed, f=0.008unknown

(2 web hits)

var-GS18508-1100-36-ASM
COL9A2 T246Muncertain benign, f=0.025unknown

Probably benign.

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
COL9A2 Q326Linsufficiently evaluated not reviewedunknown
COL9A2 Q326Pinsufficiently evaluated not reviewedunknown
COL9A2 Q326Rinsufficiently evaluated not reviewed, f=0.281unknown

(14 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
COL9A2 Q326Winsufficiently evaluated pathogenic, f=0.031unknown

(8 web hits)

var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
COL9A2 Q326Xinsufficiently evaluated not reviewed, f=0.032unknown

This is a common polymorphism (HapMap 9.4% allele frequency) of a collagen gene. The SNP rs2228564 (c.977A>G) is ancestral to this one (c.976C>T), resulting in three common amino acids at this position: “CAG” codon = Gln/Q, “CGG” codon = Arg/R, and “TGG” codon = Trp/W. The interpretation of this polymorphism compared to reference in the absence of its neighboring polymorphism results it being misinterpreted as “Stop/X” (TAG), it should be “Trp/W”.

hu3215A7 build 36 substitution variants
hu728FFF build 36 substitution variants
COL9A2 L335Vinsufficiently evaluated none, f=0.098unknown

(13 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS06985-1100-36-ASM
COL9A2 A336Einsufficiently evaluated not reviewed, f=0.003unknown var-GS19701-1100-36-ASM
COL9A2 S363Pinsufficiently evaluated not reviewedunknown
COL9A2 M384Linsufficiently evaluated not reviewed, f=0.007unknown var-GS19700-1100-36-ASM
COL9A2 V526Minsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
COL9A2 V581Iinsufficiently evaluated none, f=0.067unknown

(1 web hit)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
var-GS18508-1100-36-ASM
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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