All transcript variants in gene TP53

Information The variants shown are described using the NM_000546.5 transcript reference sequence.

390 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-16132C>A r.(?) p.(=) - benign g.7606798G>T g.7703480G>T WRAP53(NM_018081.2):c.1641G>T (p.L547=) - EFNB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16057C>T r.(?) p.(=) - likely benign g.7606723G>A g.7703405G>A WRAP53(NM_018081.2):c.1566G>A (p.A522=) - WRAP53_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-16056G>A r.(?) p.(=) - likely benign g.7606722C>T g.7703404C>T WRAP53(NM_018081.2):c.1565C>T (p.A522V) - EFNB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-16056G>C r.(?) p.(=) - benign g.7606722C>G g.7703404C>G WRAP53(NM_018081.2):c.1565C>G (p.A522G) - WRAP53_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-16056G>C r.(?) p.(=) - benign g.7606722C>G g.7703404C>G WRAP53(NM_018081.2):c.1565C>G (p.A522G) - WRAP53_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-16028G>C r.(?) p.(=) - likely benign g.7606694C>G g.7703376C>G WRAP53(NM_018081.2):c.1537C>G (p.R513G) - WRAP53_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-16028G>C r.(?) p.(=) - VUS g.7606694C>G g.7703376C>G WRAP53(NM_018081.2):c.1537C>G (p.R513G) - WRAP53_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-15984A>G r.(?) p.(=) - likely benign g.7606650T>C g.7703332T>C WRAP53(NM_018081.2):c.1493T>C (p.L498P) - WRAP53_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-15973T>C r.(?) p.(=) - benign g.7606639A>G g.7703321A>G WRAP53(NM_018081.2):c.1482A>G (p.E494=) - EFNB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-15938G>A r.(?) p.(=) - VUS g.7606604C>T g.7703286C>T WRAP53(NM_018081.2):c.1447C>T (p.R483C) - EFNB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-15691C>T r.(?) p.(=) - VUS g.7606357G>A g.7703039G>A WRAP53(NM_018081.2):c.1315G>A (p.V439M) - WRAP53_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-15684A>G r.(?) p.(=) - likely benign g.7606350T>C g.7703032T>C - - WRAP53_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-15453C>T r.(?) p.(=) - benign g.7606119G>A g.7702801G>A WRAP53(NM_018081.2):c.1223G>A (p.G408D) - EFNB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-15199G>A r.(?) p.(=) - likely pathogenic g.7605865C>T g.7702547C>T - - WRAP53_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-14422G>A r.(?) p.(=) - benign g.7605088C>T g.7701770C>T WRAP53(NM_018081.2):c.936C>T (p.C312=) - WRAP53_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-14415C>T r.(?) p.(=) - VUS g.7605081G>A g.7701763G>A WRAP53(NM_018081.2):c.929G>A (p.R310Q) - EFNB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-14405G>A r.(?) p.(=) - VUS g.7605071C>T g.7701753C>T WRAP53(NM_018081.2):c.919C>T (p.R307W) - EFNB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-14299G>A r.(?) p.(=) - likely benign g.7604965C>T g.7701647C>T WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T - WRAP53_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-14299G>A r.(?) p.(=) - likely benign g.7604965C>T - WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T - WRAP53_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-14207C>T r.(?) p.(=) - likely benign g.7604873G>A g.7701555G>A WRAP53(NM_018081.2):c.822+6G>A - EFNB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-14126G>A r.(?) p.(=) - likely benign g.7604792C>T g.7701474C>T WRAP53(NM_018081.2):c.747C>T (p.S249=) - EFNB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-13475G>A r.(?) p.(=) - VUS g.7604141C>T g.7700823C>T WRAP53(NM_018081.2):c.725C>T (p.T242I) - EFNB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-13474T>C r.(?) p.(=) - VUS g.7604140A>G g.7700822A>G WRAP53(NM_018081.2):c.724A>G (p.T242A) - EFNB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1931C>G r.(?) p.(=) - VUS g.7592597G>C g.7689279G>C WRAP53(NM_018081.2):c.487G>C (p.E163Q) - TP53_010170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-1894G>A r.(?) p.(=) - benign g.7592560C>T g.7689242C>T - - WRAP53_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-1746G>A r.(?) p.(=) - likely benign g.7592412C>T g.7689094C>T WRAP53(NM_018081.2):c.431+15C>T - TP53_010169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-1695G>T r.(?) p.(=) - likely benign g.7592361C>A g.7689043C>A WRAP53(NM_018081.2):c.395C>A (p.T132N) - TP53_010168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1508C>A r.(?) p.(=) - VUS g.7592174G>T g.7688856G>T WRAP53(NM_018081.2):c.208G>T (p.G70W) - TP53_010192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-1502G>C r.(?) p.(=) - benign g.7592168C>G g.7688850C>G - - WRAP53_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-1487C>T r.(?) p.(=) - likely benign g.7592153G>A g.7688835G>A WRAP53(NM_018081.2):c.187G>A (p.V63M) - WRAP53_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-1331G>A r.(?) p.(=) - likely benign g.7591997C>T g.7688679C>T - - WRAP53_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. _1_1i c.(?_-202)_(-29+1_-28-1)del r.0? p.0? - pathogenic g.(7579941_7590694)_(7590868_?)del - c.(?_-17900)_(?_1-1)del - TP53_010145 - PubMed: Fostira 2020 - - Germline - - - 0 - Florentia Fostira
+/+ 1i_6i c.(-29+1_-28-1)_(672+1_673-1)dup r.spl? p.? kConFab likely pathogenic g.(7577609_7578176)_(7579941_7590694)dup - P53 dup exons 2_6 - TP53_010009 - kConFab variant classification: LGR - - Unknown - 1/1658 - 0 - kConFab - Heather Thorne
-?/. - c.6G>A r.(?) p.(Glu2=) - likely benign g.7579907C>T g.7676589C>T TP53(NM_000546.5):c.6G>A (p.=) - TP53_010167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 2 c.9G>T r.(?) p.(Glu3Asp) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. 2 c.9G>T r.(?) p.(Glu3Asp) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.9G>T r.(?) p.(Glu3Asp) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.9G>T r.(?) p.(Glu3Asp) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12479 controls - 0 - Yukihide Momozawa
-/. 2 c.27C>T r.(?) p.(=) - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 2 c.27C>T r.(?) p.(=) - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 3/11241 controls - 0 - Yukihide Momozawa
-/. - c.27C>T r.(?) p.(=) - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 3/12454 controls - 0 - Yukihide Momozawa
-?/. - c.27C>T r.(?) p.(Ser9=) - likely benign g.7579886G>A g.7676568G>A TP53(NM_000546.5):c.27C>T (p.=) - TP53_010122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 2 c.28G>A r.(?) p.(Val10Ile) - VUS g.7579885C>T g.7676567C>T - - TP53_010121 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs535274413 Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.28G>A r.(?) p.(Val10Ile) - VUS g.7579885C>T g.7676567C>T - - TP53_010121 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs535274413 Germline - 2/12454 controls - 0 - Yukihide Momozawa
-/. 2 c.31G>C r.(?) p.(Glu11Gln) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 95/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 2 c.31G>C r.(?) p.(Glu11Gln) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 172/11214 controls - 0 - Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 1/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 1/53 cases - 0 - Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 184/12451 controls - 0 - Yukihide Momozawa
+/. - c.69_74+1del r.spl? p.? - pathogenic g.7579840_7579846del g.7676522_7676528del TP53(NM_000546.5):c.69_74+1delGAAACTG - TP53_010055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-?/. - c.74+11C>A r.(=) p.(=) - likely benign g.7579828G>T g.7676510G>T - - TP53_010191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.74+38C>G r.(=) p.(=) - benign g.7579801G>C g.7676483G>C TP53(NM_000546.5):c.74+38C>G - TP53_010063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.74+38C>G r.(=) p.(=) - benign g.7579801G>C g.7676483G>C TP53(NM_000546.5):c.74+38C>G - TP53_010063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 3 c.90C>T r.(?) p.(=) - benign g.7579882C>G - - - TP53_010119 not in 7051 cases breast cancer Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs370992294 Germline - 1/11241 controls - 0 - Yukihide Momozawa
-/. 3 c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 91/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 3 c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 138/11241 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 3/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/11241 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/12490 controls - 0 - Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 146/12490 controls - 0 - Yukihide Momozawa
+?/. - c.96+1G>A r.spl p.? - likely pathogenic g.7579699C>T g.7676381C>T - - TP53_010124 - - - - Unknown - - - 0 - IMGAG
-/. - c.96+41_97-54del r.? p.? - benign g.7579669_7579684del g.7676351_7676366del TP53(NM_000546.5):c.96+41_97-54delACCTGGAGGGCTGGGG, TP53(NM_001126114.2):c.96+41_97-54delACCTGGAGGGCTGGGG - TP53_010054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.96+41_97-54del r.? p.? - benign g.7579669_7579684del g.7676351_7676366del TP53(NM_000546.5):c.96+41_97-54delACCTGGAGGGCTGGGG, TP53(NM_001126114.2):c.96+41_97-54delACCTGGAGGGCTGGGG - TP53_010053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-?/. - c.97-52G>A r.(=) p.(=) - likely benign g.7579642C>T g.7676324C>T TP53(NM_000546.5):c.97-52G>A - TP53_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.97-52G>A r.(=) p.(=) - likely benign g.7579642C>T g.7676324C>T TP53(NM_000546.5):c.97-52G>A - TP53_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.97-29C>A r.(=) p.(=) - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.97-29C>A r.(=) p.(=) - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.97-29C>A r.(=) p.(=) - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.97-6C>T r.(=) p.(=) - benign g.7579596G>A g.7676278G>A TP53(NM_001126114.2):c.97-6C>T - TP53_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.99C>T r.(?) p.(Ser33=) - likely benign g.7579588G>A g.7676270G>A TP53(NM_001126114.2):c.99C>T (p.S33=) - TP53_010051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.108G>A r.(?) p.(Pro36=) - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.108G>A r.(?) p.(Pro36=) - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.108G>A r.(?) p.(Pro36=) - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.108G>A r.(?) p.(Pro36=) - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 4 c.108G>A r.(?) p.(=) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 36/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 4 c.108G>A r.(?) p.(=) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 85/11241 controls - 0 - Yukihide Momozawa
-/. - c.108G>A r.(?) p.(=) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 1/11241 controls - 0 - Yukihide Momozawa
-/. - c.108G>A r.(?) p.(=) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 2/12490 controls - 0 - Yukihide Momozawa
-/. - c.108G>A r.(?) p.(=) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 88/12490 controls - 0 - Yukihide Momozawa
-?/. - c.108G>A r.(?) p.(Pro36=) - likely benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.108G>A r.(?) p.(Pro36=) - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=), p.=), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 4 c.129G>C r.(?) p.(Leu43Phe) - VUS g.7579558C>G g.7676240C>G - - TP53_010117 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs754332870 Germline - 4/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. 4 c.129G>C r.(?) p.(Leu43Phe) - VUS g.7579558C>G g.7676240C>G - - TP53_010117 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs754332870 Germline - 1/11241 controls - 0 - Yukihide Momozawa
./. - c.139C>T r.(?) p.(Pro47Ser) - VUS g.7579548G>A g.7676230G>A - - TP53_010024 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-/. 4 c.141G>A r.(?) p.(=) - benign g.7579546C>T g.7676228C>T - - TP53_010116 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201741778 Germline - 3/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 4 c.141G>A r.(?) p.(=) - benign g.7579546C>T g.7676228C>T - - TP53_010116 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201741778 Germline - 1/11241 controls - 0 - Yukihide Momozawa
-/. - c.141G>A r.(?) p.(=) - benign g.7579546C>T g.7676228C>T - - TP53_010116 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201741778 Germline - 1/12490 controls - 0 - Yukihide Momozawa
?/. 4 c.145G>C r.(?) p.(Asp49His) - VUS g.7579542C>G g.7676224C>G - - TP53_010115 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780728 Germline - 36/7051 cases breast cancer - 0 - Yukihide Momozawa
?/. 4 c.145G>C r.(?) p.(Asp49His) - VUS g.7579542C>G g.7676224C>G - - TP53_010115 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780728 Germline - 49/11241 controls - 0 - Yukihide Momozawa
?/. - c.145G>C r.(?) p.(Asp49His) - VUS g.7579542C>G g.7676224C>G - - TP53_010115 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780728 Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.145G>C r.(?) p.(Asp49His) - VUS g.7579542C>G g.7676224C>G - - TP53_010115 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780728 Germline - 1/53 cases - 0 - Yukihide Momozawa
?/. - c.145G>C r.(?) p.(Asp49His) - VUS g.7579542C>G g.7676224C>G - - TP53_010115 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587780728 Germline - 68/12490 controls - 0 - Yukihide Momozawa
./. - c.173C>G r.(?) p.(Pro58Arg) - VUS g.7579514G>C g.7676196G>C - - TP53_010023 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.182A>C r.(?) p.(Asp61Ala) - VUS g.7579505T>G g.7676187T>G - - TP53_010114 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - Yukihide Momozawa
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA (E62del) - TP53_010141 - - - - Somatic - - - 0 - Anja Bukovac
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA - TP53_010141 - - - - Somatic - - - 0 - Anja Bukovac
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA - TP53_010141 - - - - Somatic - - - - - Anja Bukovac
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA - TP53_010141 - - - - Somatic - - - - - Anja Bukovac
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA - TP53_010141 - - - - Somatic - - - - - Anja Bukovac
+?/. 4 c.186del r.(?) p.(Ala63Leufs*60) - pathogenic g.7579502del g.7676184del 186delA - TP53_010141 - - - - Somatic - - - - - Anja Bukovac
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