Links from Gene
Items: 1 to 20 of 1000
1.
rs1491536463 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA
[Show Flanks]
- Chromosome:
- 9:85955361
(GRCh38)
9:88570277
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85955361::A,NC_000009.12:85955361::ATA,NC_000009.12:85955361::ATATA,NC_000009.12:85955361::ATATATA,NC_000009.12:85955361::ATATATATA,NC_000009.12:85955361::ATATATATATA
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.00319/48
(TOMMO)
- HGVS:
NC_000009.12:g.85955361_85955362insA, NC_000009.12:g.85955361_85955362insATA, NC_000009.12:g.85955361_85955362insATATA, NC_000009.12:g.85955361_85955362insATATATA, NC_000009.12:g.85955361_85955362insATATATATA, NC_000009.12:g.85955361_85955362insATATATATATA, NC_000009.11:g.88570276_88570277insA, NC_000009.11:g.88570276_88570277insATA, NC_000009.11:g.88570276_88570277insATATA, NC_000009.11:g.88570276_88570277insATATATA, NC_000009.11:g.88570276_88570277insATATATATA, NC_000009.11:g.88570276_88570277insATATATATATA
2.
rs1491523445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:86010537
(GRCh38)
9:88625453
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86010537:T:TT
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491497023 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:86005874
(GRCh38)
9:88620789
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86005873:TA:
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491494847 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATAG
[Show Flanks]
- Chromosome:
- 9:86024925
(GRCh38)
9:88639841
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86024925:AGATAG:AGATAGATAG
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
AGATAGATAG=0.0002/1
(
ALFA)
AGAT=0.0002/1
(Estonian)
- HGVS:
NC_000009.12:g.86024928_86024931dup, NC_000009.11:g.88639843_88639846dup, XM_005252127.5:c.*2968_*2971dup, XM_005252127.3:c.*2968_*2971dup, XM_005252127.2:c.*2968_*2971dup, NM_024635.4:c.*2968_*2971dup, NM_001321882.2:c.*2968_*2971dup, NM_001321882.1:c.*2968_*2971dup, NM_001321881.2:c.*2968_*2971dup, XM_024447648.2:c.*2968_*2971dup, XM_024447648.1:c.*2968_*2971dup, XM_024447649.2:c.*2968_*2971dup, XM_024447649.1:c.*2968_*2971dup, XM_047423710.1:c.*2968_*2971dup
5.
rs1491487804 has merged into rs34535924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:85972518
(GRCh38)
9:88587433
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:85972509:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.85972518_85972532del, NC_000009.12:g.85972519_85972532del, NC_000009.12:g.85972520_85972532del, NC_000009.12:g.85972521_85972532del, NC_000009.12:g.85972522_85972532del, NC_000009.12:g.85972523_85972532del, NC_000009.12:g.85972525_85972532del, NC_000009.12:g.85972527_85972532del, NC_000009.12:g.85972528_85972532del, NC_000009.12:g.85972529_85972532del, NC_000009.12:g.85972530_85972532del, NC_000009.12:g.85972531_85972532del, NC_000009.12:g.85972532del, NC_000009.12:g.85972532dup, NC_000009.12:g.85972531_85972532dup, NC_000009.12:g.85972530_85972532dup, NC_000009.12:g.85972529_85972532dup, NC_000009.12:g.85972528_85972532dup, NC_000009.12:g.85972526_85972532dup, NC_000009.12:g.85972525_85972532dup, NC_000009.11:g.88587433_88587447del, NC_000009.11:g.88587434_88587447del, NC_000009.11:g.88587435_88587447del, NC_000009.11:g.88587436_88587447del, NC_000009.11:g.88587437_88587447del, NC_000009.11:g.88587438_88587447del, NC_000009.11:g.88587440_88587447del, NC_000009.11:g.88587442_88587447del, NC_000009.11:g.88587443_88587447del, NC_000009.11:g.88587444_88587447del, NC_000009.11:g.88587445_88587447del, NC_000009.11:g.88587446_88587447del, NC_000009.11:g.88587447del, NC_000009.11:g.88587447dup, NC_000009.11:g.88587446_88587447dup, NC_000009.11:g.88587445_88587447dup, NC_000009.11:g.88587444_88587447dup, NC_000009.11:g.88587443_88587447dup, NC_000009.11:g.88587441_88587447dup, NC_000009.11:g.88587440_88587447dup
6.
rs1491409899 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 9:86011912
(GRCh38)
9:88626827
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86011911:TT:
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000068/18
(TOPMED)
-=0.000077/10
(GnomAD)
- HGVS:
7.
rs1491400649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:85987586
(GRCh38)
9:88602502
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85987586:T:TT
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
9.
rs1491348277 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 9:86024927
(GRCh38)
9:88639842
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86024924:GAGA:GA
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.86024925GA[1], NC_000009.11:g.88639840GA[1], XM_005252127.5:c.*2965GA[1], XM_005252127.3:c.*2965GA[1], XM_005252127.2:c.*2965GA[1], NM_024635.4:c.*2965GA[1], NM_001321882.2:c.*2965GA[1], NM_001321882.1:c.*2965GA[1], NM_001321881.2:c.*2965GA[1], XM_024447648.2:c.*2965GA[1], XM_024447648.1:c.*2965GA[1], XM_024447649.2:c.*2965GA[1], XM_024447649.1:c.*2965GA[1], XM_047423710.1:c.*2965GA[1]
10.
rs1491296002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:86010538
(GRCh38)
9:88625453
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86010536:ATA:A
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1491178706 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:86010549
(GRCh38)
9:88625464
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86010548:CT:
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00032/42
(GnomAD)
- HGVS:
12.
rs1491168803 has merged into rs61549690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:85955372
(GRCh38)
9:88570287
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:85955360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTT=0.25/10
(GENOME_DK)
- HGVS:
NC_000009.12:g.85955372_85955377del, NC_000009.12:g.85955373_85955377del, NC_000009.12:g.85955374_85955377del, NC_000009.12:g.85955375_85955377del, NC_000009.12:g.85955376_85955377del, NC_000009.12:g.85955377del, NC_000009.12:g.85955377dup, NC_000009.12:g.85955376_85955377dup, NC_000009.12:g.85955375_85955377dup, NC_000009.12:g.85955374_85955377dup, NC_000009.12:g.85955373_85955377dup, NC_000009.12:g.85955372_85955377dup, NC_000009.12:g.85955371_85955377dup, NC_000009.12:g.85955370_85955377dup, NC_000009.12:g.85955369_85955377dup, NC_000009.12:g.85955368_85955377dup, NC_000009.12:g.85955367_85955377dup, NC_000009.12:g.85955366_85955377dup, NC_000009.12:g.85955365_85955377dup, NC_000009.12:g.85955364_85955377dup, NC_000009.11:g.88570287_88570292del, NC_000009.11:g.88570288_88570292del, NC_000009.11:g.88570289_88570292del, NC_000009.11:g.88570290_88570292del, NC_000009.11:g.88570291_88570292del, NC_000009.11:g.88570292del, NC_000009.11:g.88570292dup, NC_000009.11:g.88570291_88570292dup, NC_000009.11:g.88570290_88570292dup, NC_000009.11:g.88570289_88570292dup, NC_000009.11:g.88570288_88570292dup, NC_000009.11:g.88570287_88570292dup, NC_000009.11:g.88570286_88570292dup, NC_000009.11:g.88570285_88570292dup, NC_000009.11:g.88570284_88570292dup, NC_000009.11:g.88570283_88570292dup, NC_000009.11:g.88570282_88570292dup, NC_000009.11:g.88570281_88570292dup, NC_000009.11:g.88570280_88570292dup, NC_000009.11:g.88570279_88570292dup
13.
rs1491135115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATCATATAATATATACTATAATATATAATATA
[Show Flanks]
- Chromosome:
- 9:86011912
(GRCh38)
9:88626828
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86011912:TATATATCATATAATATATACTATAATATATAATATA:TATATATCATATAATATATACTATAATATATAATATATATCATATAATATATACTATAATATATAATATA
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TATATATCATATAATATATACTATAATATATAA=0.004278/551
(GnomAD)
- HGVS:
14.
rs1491002082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAG
[Show Flanks]
- Chromosome:
- 9:86004486
(GRCh38)
9:88619402
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86004486:AAG:AAGAAG
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAG=0./0
(
ALFA)
AAG=0.000114/16
(GnomAD)
- HGVS:
16.
rs1490967216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:86001738
(GRCh38)
9:88616653
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86001737:C:G
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490847303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:85984267
(GRCh38)
9:88599182
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85984266:T:C
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1490801906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 9:85975926
(GRCh38)
9:88590841
(GRCh37)
- Canonical SPDI:
- NC_000009.12:85975925:T:A,NC_000009.12:85975925:T:C,NC_000009.12:85975925:T:G
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490757016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:86016101
(GRCh38)
9:88631016
(GRCh37)
- Canonical SPDI:
- NC_000009.12:86016100:G:A
- Gene:
- NAA35 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: