Links from Nucleotide
Items: 1 to 20 of 20576
1.
rs1491570632 has merged into rs574634103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 3:179170068
(GRCh38)
3:178887856
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179170066:CGCGCGCGCGC:C,NC_000003.12:179170066:CGCGCGCGCGC:CGC,NC_000003.12:179170066:CGCGCGCGCGC:CGCGC,NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGC,NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC,NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC
- Gene:
- PIK3CA (Varview), LOC124900560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGC=0./0
(
ALFA)
-=0.000128/34
(TOPMED)
-=0.15/6
(GENOME_DK)
-=0.220248/1103
(1000Genomes)
- HGVS:
NC_000003.12:g.179170068_179170077del, NC_000003.12:g.179170068GC[1], NC_000003.12:g.179170068GC[2], NC_000003.12:g.179170068GC[3], NC_000003.12:g.179170068GC[4], NC_000003.12:g.179170068GC[6], NC_000003.12:g.179170068GC[7], NC_000003.11:g.178887856_178887865del, NC_000003.11:g.178887856GC[1], NC_000003.11:g.178887856GC[2], NC_000003.11:g.178887856GC[3], NC_000003.11:g.178887856GC[4], NC_000003.11:g.178887856GC[6], NC_000003.11:g.178887856GC[7], NG_012113.2:g.26546_26555del, NG_012113.2:g.26546GC[1], NG_012113.2:g.26546GC[2], NG_012113.2:g.26546GC[3], NG_012113.2:g.26546GC[4], NG_012113.2:g.26546GC[6], NG_012113.2:g.26546GC[7]
2.
rs1491549834 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:179150016
(GRCh38)
3:178867805
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179150016::G
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
3.
rs1491499296 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:179207548
(GRCh38)
3:178925337
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179207548:C:CC
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491463815 has merged into rs975135345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC
[Show Flanks]
- Chromosome:
- 3:179170066
(GRCh38)
3:178887854
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179170062:CACAC:CAC,NC_000003.12:179170062:CACAC:CACACAC
- Gene:
- PIK3CA (Varview), LOC124900560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACAC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
5.
rs1491451496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:179150841
(GRCh38)
3:178868629
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179150838:TATA:TA
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATA=0.000071/1
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
6.
rs1491436897 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:179220048
(GRCh38)
3:178937836
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179220046:TTT:T
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- HGVS:
NC_000003.12:g.179220048_179220049del, NC_000003.11:g.178937836_178937837del, NG_012113.2:g.76526_76527del, NM_006218.4:c.2011_2012del, NM_006218.3:c.2011_2012del, NM_006218.2:c.2011_2012del, XM_006713658.5:c.2011_2012del, XM_006713658.4:c.2011_2012del, XM_006713658.3:c.2011_2012del, XM_006713658.2:c.2011_2012del, XM_006713658.1:c.2011_2012del, NP_006209.2:p.Leu671fs, XP_006713721.1:p.Leu671fs
7.
rs1491399523 has merged into rs35995073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:179150181
(GRCh38)
3:178867969
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:179150170:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGT=0./0
(
ALFA)
GTGTGTGTGTGT=0.016249/4301
(TOPMED)
-=0.358588/1382
(ALSPAC)
- HGVS:
NC_000003.12:g.179150171GT[5], NC_000003.12:g.179150171GT[7], NC_000003.12:g.179150171GT[8], NC_000003.12:g.179150171GT[9], NC_000003.12:g.179150171GT[10], NC_000003.12:g.179150171GT[11], NC_000003.12:g.179150171GT[12], NC_000003.12:g.179150171GT[13], NC_000003.12:g.179150171GT[14], NC_000003.12:g.179150171GT[15], NC_000003.12:g.179150171GT[17], NC_000003.12:g.179150171GT[18], NC_000003.12:g.179150171GT[19], NC_000003.12:g.179150171GT[20], NC_000003.12:g.179150171GT[21], NC_000003.12:g.179150171GT[22], NC_000003.12:g.179150171GT[23], NC_000003.12:g.179150171GT[24], NC_000003.12:g.179150171GT[25], NC_000003.11:g.178867959GT[5], NC_000003.11:g.178867959GT[7], NC_000003.11:g.178867959GT[8], NC_000003.11:g.178867959GT[9], NC_000003.11:g.178867959GT[10], NC_000003.11:g.178867959GT[11], NC_000003.11:g.178867959GT[12], NC_000003.11:g.178867959GT[13], NC_000003.11:g.178867959GT[14], NC_000003.11:g.178867959GT[15], NC_000003.11:g.178867959GT[17], NC_000003.11:g.178867959GT[18], NC_000003.11:g.178867959GT[19], NC_000003.11:g.178867959GT[20], NC_000003.11:g.178867959GT[21], NC_000003.11:g.178867959GT[22], NC_000003.11:g.178867959GT[23], NC_000003.11:g.178867959GT[24], NC_000003.11:g.178867959GT[25], NG_012113.2:g.6649GT[5], NG_012113.2:g.6649GT[7], NG_012113.2:g.6649GT[8], NG_012113.2:g.6649GT[9], NG_012113.2:g.6649GT[10], NG_012113.2:g.6649GT[11], NG_012113.2:g.6649GT[12], NG_012113.2:g.6649GT[13], NG_012113.2:g.6649GT[14], NG_012113.2:g.6649GT[15], NG_012113.2:g.6649GT[17], NG_012113.2:g.6649GT[18], NG_012113.2:g.6649GT[19], NG_012113.2:g.6649GT[20], NG_012113.2:g.6649GT[21], NG_012113.2:g.6649GT[22], NG_012113.2:g.6649GT[23], NG_012113.2:g.6649GT[24], NG_012113.2:g.6649GT[25]
8.
rs1491329027 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:179207549
(GRCh38)
3:178925337
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179207547:TCT:T
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491313872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:179150839
(GRCh38)
3:178868628
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179150839:A:AA
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491289057 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:179150202
(GRCh38)
3:178867990
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179150201:TT:
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000066/9
(GnomAD)
- HGVS:
11.
rs1491285891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 3:179170077
(GRCh38)
3:178887866
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179170077:A:ATA
- Gene:
- PIK3CA (Varview), LOC124900560 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
ATA=0./0
(
ALFA)
AT=0.00006/2
(GnomAD)
- HGVS:
14.
rs1491207836 has merged into rs77335735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 3:179187046
(GRCh38)
3:178904834
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179187038:TTTTTTTTTT:TTTTTTT,NC_000003.12:179187038:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:179187038:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:179187038:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.009932/132
(
ALFA)
-=0.081869/410
(1000Genomes)
-=0.103249/27329
(TOPMED)
- HGVS:
NC_000003.12:g.179187046_179187048del, NC_000003.12:g.179187048del, NC_000003.12:g.179187048dup, NC_000003.12:g.179187047_179187048dup, NC_000003.11:g.178904834_178904836del, NC_000003.11:g.178904836del, NC_000003.11:g.178904836dup, NC_000003.11:g.178904835_178904836dup, NG_012113.2:g.43524_43526del, NG_012113.2:g.43526del, NG_012113.2:g.43526dup, NG_012113.2:g.43525_43526dup
15.
rs1491179582 has merged into rs60084117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 3:179170090
(GRCh38)
3:178887878
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC
- Gene:
- PIK3CA (Varview), LOC124900560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
CACACACACACACA=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.179170078AC[6], NC_000003.12:g.179170078AC[7], NC_000003.12:g.179170078AC[8], NC_000003.12:g.179170078AC[9], NC_000003.12:g.179170078AC[10], NC_000003.12:g.179170078AC[12], NC_000003.12:g.179170078AC[13], NC_000003.12:g.179170078AC[14], NC_000003.12:g.179170078AC[15], NC_000003.12:g.179170078AC[16], NC_000003.12:g.179170078AC[17], NC_000003.12:g.179170078AC[18], NC_000003.12:g.179170078AC[19], NC_000003.11:g.178887866AC[6], NC_000003.11:g.178887866AC[7], NC_000003.11:g.178887866AC[8], NC_000003.11:g.178887866AC[9], NC_000003.11:g.178887866AC[10], NC_000003.11:g.178887866AC[12], NC_000003.11:g.178887866AC[13], NC_000003.11:g.178887866AC[14], NC_000003.11:g.178887866AC[15], NC_000003.11:g.178887866AC[16], NC_000003.11:g.178887866AC[17], NC_000003.11:g.178887866AC[18], NC_000003.11:g.178887866AC[19], NG_012113.2:g.26556AC[6], NG_012113.2:g.26556AC[7], NG_012113.2:g.26556AC[8], NG_012113.2:g.26556AC[9], NG_012113.2:g.26556AC[10], NG_012113.2:g.26556AC[12], NG_012113.2:g.26556AC[13], NG_012113.2:g.26556AC[14], NG_012113.2:g.26556AC[15], NG_012113.2:g.26556AC[16], NG_012113.2:g.26556AC[17], NG_012113.2:g.26556AC[18], NG_012113.2:g.26556AC[19]
17.
rs1491170235 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:179178261
(GRCh38)
3:178896049
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179178260:CA:
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00018/5
(TOMMO)
- HGVS:
18.
rs1491161059 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:179202938
(GRCh38)
3:178920727
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179202938:G:GG
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000032/4
(GnomAD)
- HGVS:
19.
rs1491088195 has merged into rs144349648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:179231639
(GRCh38)
3:178949427
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179231630:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.179231639_179231658del, NC_000003.12:g.179231641_179231658del, NC_000003.12:g.179231642_179231658del, NC_000003.12:g.179231643_179231658del, NC_000003.12:g.179231644_179231658del, NC_000003.12:g.179231645_179231658del, NC_000003.12:g.179231646_179231658del, NC_000003.12:g.179231647_179231658del, NC_000003.12:g.179231648_179231658del, NC_000003.12:g.179231649_179231658del, NC_000003.12:g.179231650_179231658del, NC_000003.12:g.179231651_179231658del, NC_000003.12:g.179231652_179231658del, NC_000003.12:g.179231653_179231658del, NC_000003.12:g.179231654_179231658del, NC_000003.12:g.179231655_179231658del, NC_000003.12:g.179231656_179231658del, NC_000003.12:g.179231657_179231658del, NC_000003.12:g.179231658del, NC_000003.12:g.179231658dup, NC_000003.12:g.179231657_179231658dup, NC_000003.12:g.179231656_179231658dup, NC_000003.12:g.179231655_179231658dup, NC_000003.12:g.179231654_179231658dup, NC_000003.12:g.179231653_179231658dup, NC_000003.12:g.179231652_179231658dup, NC_000003.12:g.179231651_179231658dup, NC_000003.12:g.179231650_179231658dup, NC_000003.12:g.179231649_179231658dup, NC_000003.12:g.179231647_179231658dup, NC_000003.12:g.179231641_179231658dup, NC_000003.12:g.179231634_179231658dup, NC_000003.11:g.178949427_178949446del, NC_000003.11:g.178949429_178949446del, NC_000003.11:g.178949430_178949446del, NC_000003.11:g.178949431_178949446del, NC_000003.11:g.178949432_178949446del, NC_000003.11:g.178949433_178949446del, NC_000003.11:g.178949434_178949446del, NC_000003.11:g.178949435_178949446del, NC_000003.11:g.178949436_178949446del, NC_000003.11:g.178949437_178949446del, NC_000003.11:g.178949438_178949446del, NC_000003.11:g.178949439_178949446del, NC_000003.11:g.178949440_178949446del, NC_000003.11:g.178949441_178949446del, NC_000003.11:g.178949442_178949446del, NC_000003.11:g.178949443_178949446del, NC_000003.11:g.178949444_178949446del, NC_000003.11:g.178949445_178949446del, NC_000003.11:g.178949446del, NC_000003.11:g.178949446dup, NC_000003.11:g.178949445_178949446dup, NC_000003.11:g.178949444_178949446dup, NC_000003.11:g.178949443_178949446dup, NC_000003.11:g.178949442_178949446dup, NC_000003.11:g.178949441_178949446dup, NC_000003.11:g.178949440_178949446dup, NC_000003.11:g.178949439_178949446dup, NC_000003.11:g.178949438_178949446dup, NC_000003.11:g.178949437_178949446dup, NC_000003.11:g.178949435_178949446dup, NC_000003.11:g.178949429_178949446dup, NC_000003.11:g.178949422_178949446dup, NG_012113.2:g.88117_88136del, NG_012113.2:g.88119_88136del, NG_012113.2:g.88120_88136del, NG_012113.2:g.88121_88136del, NG_012113.2:g.88122_88136del, NG_012113.2:g.88123_88136del, NG_012113.2:g.88124_88136del, NG_012113.2:g.88125_88136del, NG_012113.2:g.88126_88136del, NG_012113.2:g.88127_88136del, NG_012113.2:g.88128_88136del, NG_012113.2:g.88129_88136del, NG_012113.2:g.88130_88136del, NG_012113.2:g.88131_88136del, NG_012113.2:g.88132_88136del, NG_012113.2:g.88133_88136del, NG_012113.2:g.88134_88136del, NG_012113.2:g.88135_88136del, NG_012113.2:g.88136del, NG_012113.2:g.88136dup, NG_012113.2:g.88135_88136dup, NG_012113.2:g.88134_88136dup, NG_012113.2:g.88133_88136dup, NG_012113.2:g.88132_88136dup, NG_012113.2:g.88131_88136dup, NG_012113.2:g.88130_88136dup, NG_012113.2:g.88129_88136dup, NG_012113.2:g.88128_88136dup, NG_012113.2:g.88127_88136dup, NG_012113.2:g.88125_88136dup, NG_012113.2:g.88119_88136dup, NG_012113.2:g.88112_88136dup
20.
rs1491038618 has merged into rs372017091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:179202948
(GRCh38)
3:178920736
(GRCh37)
- Canonical SPDI:
- NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:179202939:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PIK3CA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTT=0.002/10
(1000Genomes)
- HGVS:
NC_000003.12:g.179202948_179202958del, NC_000003.12:g.179202950_179202958del, NC_000003.12:g.179202953_179202958del, NC_000003.12:g.179202955_179202958del, NC_000003.12:g.179202956_179202958del, NC_000003.12:g.179202957_179202958del, NC_000003.12:g.179202958del, NC_000003.12:g.179202958dup, NC_000003.12:g.179202957_179202958dup, NC_000003.12:g.179202956_179202958dup, NC_000003.12:g.179202955_179202958dup, NC_000003.12:g.179202954_179202958dup, NC_000003.12:g.179202953_179202958dup, NC_000003.12:g.179202952_179202958dup, NC_000003.11:g.178920736_178920746del, NC_000003.11:g.178920738_178920746del, NC_000003.11:g.178920741_178920746del, NC_000003.11:g.178920743_178920746del, NC_000003.11:g.178920744_178920746del, NC_000003.11:g.178920745_178920746del, NC_000003.11:g.178920746del, NC_000003.11:g.178920746dup, NC_000003.11:g.178920745_178920746dup, NC_000003.11:g.178920744_178920746dup, NC_000003.11:g.178920743_178920746dup, NC_000003.11:g.178920742_178920746dup, NC_000003.11:g.178920741_178920746dup, NC_000003.11:g.178920740_178920746dup, NG_012113.2:g.59426_59436del, NG_012113.2:g.59428_59436del, NG_012113.2:g.59431_59436del, NG_012113.2:g.59433_59436del, NG_012113.2:g.59434_59436del, NG_012113.2:g.59435_59436del, NG_012113.2:g.59436del, NG_012113.2:g.59436dup, NG_012113.2:g.59435_59436dup, NG_012113.2:g.59434_59436dup, NG_012113.2:g.59433_59436dup, NG_012113.2:g.59432_59436dup, NG_012113.2:g.59431_59436dup, NG_012113.2:g.59430_59436dup