Links from Gene
Items: 1 to 20 of 4936
1.
rs1491576828 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:58423514
(GRCh38)
14:58890232
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58423513:CA:
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.00124/35
(TOMMO)
- HGVS:
2.
rs1491369294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 14:58419450
(GRCh38)
14:58886169
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419450:TC:TCTC
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
TC=0.00007/2
(TOMMO)
TC=0.00031/2
(1000Genomes)
TC=0.00058/36
(GnomAD)
- HGVS:
3.
rs1491360976 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:58419505
(GRCh38)
14:58886224
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419505::C
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000768/86
(GnomAD)
- HGVS:
4.
rs1491356405 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:58422835
(GRCh38)
14:58889553
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58422832:AGAG:AG
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1491313080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 14:58419506
(GRCh38)
14:58886224
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419504:AAA:A,NC_000014.9:58419504:AAA:AAAAA
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00011/2
(TOMMO)
- HGVS:
7.
rs1491222126 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:58419529
(GRCh38)
14:58886248
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419529::C
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000036/5
(GnomAD)
- HGVS:
8.
rs1491199004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 14:58419532
(GRCh38)
14:58886250
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419528:AAAAA:AAA
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
9.
rs1491172474 has merged into rs398025245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:58423524
(GRCh38)
14:58890242
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58423514:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.45/18
(GENOME_DK)
- HGVS:
NC_000014.9:g.58423524_58423539del, NC_000014.9:g.58423526_58423539del, NC_000014.9:g.58423527_58423539del, NC_000014.9:g.58423528_58423539del, NC_000014.9:g.58423529_58423539del, NC_000014.9:g.58423530_58423539del, NC_000014.9:g.58423531_58423539del, NC_000014.9:g.58423532_58423539del, NC_000014.9:g.58423533_58423539del, NC_000014.9:g.58423534_58423539del, NC_000014.9:g.58423535_58423539del, NC_000014.9:g.58423536_58423539del, NC_000014.9:g.58423537_58423539del, NC_000014.9:g.58423538_58423539del, NC_000014.9:g.58423539del, NC_000014.9:g.58423539dup, NC_000014.9:g.58423538_58423539dup, NC_000014.9:g.58423537_58423539dup, NC_000014.9:g.58423536_58423539dup, NC_000014.9:g.58423535_58423539dup, NC_000014.9:g.58423534_58423539dup, NC_000014.9:g.58423533_58423539dup, NC_000014.9:g.58423532_58423539dup, NC_000014.9:g.58423523_58423539dup, NC_000014.9:g.58423539_58423540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.58890242_58890257del, NC_000014.8:g.58890244_58890257del, NC_000014.8:g.58890245_58890257del, NC_000014.8:g.58890246_58890257del, NC_000014.8:g.58890247_58890257del, NC_000014.8:g.58890248_58890257del, NC_000014.8:g.58890249_58890257del, NC_000014.8:g.58890250_58890257del, NC_000014.8:g.58890251_58890257del, NC_000014.8:g.58890252_58890257del, NC_000014.8:g.58890253_58890257del, NC_000014.8:g.58890254_58890257del, NC_000014.8:g.58890255_58890257del, NC_000014.8:g.58890256_58890257del, NC_000014.8:g.58890257del, NC_000014.8:g.58890257dup, NC_000014.8:g.58890256_58890257dup, NC_000014.8:g.58890255_58890257dup, NC_000014.8:g.58890254_58890257dup, NC_000014.8:g.58890253_58890257dup, NC_000014.8:g.58890252_58890257dup, NC_000014.8:g.58890251_58890257dup, NC_000014.8:g.58890250_58890257dup, NC_000014.8:g.58890241_58890257dup, NC_000014.8:g.58890257_58890258insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051335.2:g.1140_1155del, NG_051335.2:g.1142_1155del, NG_051335.2:g.1143_1155del, NG_051335.2:g.1144_1155del, NG_051335.2:g.1145_1155del, NG_051335.2:g.1146_1155del, NG_051335.2:g.1147_1155del, NG_051335.2:g.1148_1155del, NG_051335.2:g.1149_1155del, NG_051335.2:g.1150_1155del, NG_051335.2:g.1151_1155del, NG_051335.2:g.1152_1155del, NG_051335.2:g.1153_1155del, NG_051335.2:g.1154_1155del, NG_051335.2:g.1155del, NG_051335.2:g.1155dup, NG_051335.2:g.1154_1155dup, NG_051335.2:g.1153_1155dup, NG_051335.2:g.1152_1155dup, NG_051335.2:g.1151_1155dup, NG_051335.2:g.1150_1155dup, NG_051335.2:g.1149_1155dup, NG_051335.2:g.1148_1155dup, NG_051335.2:g.1139_1155dup, NG_051335.2:g.1155_1156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1491032814 has merged into rs10656955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:58414020
(GRCh38)
14:58880738
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000014.9:g.58414020_58414036del, NC_000014.9:g.58414021_58414036del, NC_000014.9:g.58414022_58414036del, NC_000014.9:g.58414023_58414036del, NC_000014.9:g.58414024_58414036del, NC_000014.9:g.58414025_58414036del, NC_000014.9:g.58414026_58414036del, NC_000014.9:g.58414027_58414036del, NC_000014.9:g.58414028_58414036del, NC_000014.9:g.58414029_58414036del, NC_000014.9:g.58414030_58414036del, NC_000014.9:g.58414031_58414036del, NC_000014.9:g.58414032_58414036del, NC_000014.9:g.58414033_58414036del, NC_000014.9:g.58414034_58414036del, NC_000014.9:g.58414035_58414036del, NC_000014.9:g.58414036del, NC_000014.9:g.58414036dup, NC_000014.9:g.58414035_58414036dup, NC_000014.9:g.58414034_58414036dup, NC_000014.9:g.58414033_58414036dup, NC_000014.9:g.58414032_58414036dup, NC_000014.9:g.58414031_58414036dup, NC_000014.9:g.58414030_58414036dup, NC_000014.9:g.58414029_58414036dup, NC_000014.9:g.58414028_58414036dup, NC_000014.9:g.58414027_58414036dup, NC_000014.9:g.58414026_58414036dup, NC_000014.9:g.58414025_58414036dup, NC_000014.9:g.58414009_58414036A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.58880738_58880754del, NC_000014.8:g.58880739_58880754del, NC_000014.8:g.58880740_58880754del, NC_000014.8:g.58880741_58880754del, NC_000014.8:g.58880742_58880754del, NC_000014.8:g.58880743_58880754del, NC_000014.8:g.58880744_58880754del, NC_000014.8:g.58880745_58880754del, NC_000014.8:g.58880746_58880754del, NC_000014.8:g.58880747_58880754del, NC_000014.8:g.58880748_58880754del, NC_000014.8:g.58880749_58880754del, NC_000014.8:g.58880750_58880754del, NC_000014.8:g.58880751_58880754del, NC_000014.8:g.58880752_58880754del, NC_000014.8:g.58880753_58880754del, NC_000014.8:g.58880754del, NC_000014.8:g.58880754dup, NC_000014.8:g.58880753_58880754dup, NC_000014.8:g.58880752_58880754dup, NC_000014.8:g.58880751_58880754dup, NC_000014.8:g.58880750_58880754dup, NC_000014.8:g.58880749_58880754dup, NC_000014.8:g.58880748_58880754dup, NC_000014.8:g.58880747_58880754dup, NC_000014.8:g.58880746_58880754dup, NC_000014.8:g.58880745_58880754dup, NC_000014.8:g.58880744_58880754dup, NC_000014.8:g.58880743_58880754dup, NC_000014.8:g.58880727_58880754A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1490846783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58412832
(GRCh38)
14:58879550
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58412831:T:C
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490779022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58419450
(GRCh38)
14:58886168
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419449:G:A
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/2
(GnomAD)
A=0.00029/5
(TOMMO)
A=0.00034/1
(KOREAN)
- HGVS:
14.
rs1490718332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:58420114
(GRCh38)
14:58886832
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58420113:A:G
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490671733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58427658
(GRCh38)
14:58894376
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58427657:G:A
- Gene:
- KIAA0586 (Varview), TIMM9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490534822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:58425547
(GRCh38)
14:58892265
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58425546:A:G
- Gene:
- KIAA0586 (Varview), TIMM9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490519740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 14:58427770
(GRCh38)
14:58894489
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58427770:AC:ACAC
- Gene:
- KIAA0586 (Varview), TIMM9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0./0
(
ALFA)
AC=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.58427771_58427772dup, NC_000014.8:g.58894489_58894490dup, NG_051335.2:g.5387_5388dup, NM_014749.5:c.-494_-493dup, NM_014749.4:c.-494_-493dup, NM_001329943.3:c.-494_-493dup, NM_001329943.2:c.-494_-493dup, NM_001329943.1:c.-494_-493dup, NM_001329944.2:c.-494_-493dup, NM_001329944.1:c.-494_-493dup, NM_001329946.2:c.-494_-493dup, NM_001329946.1:c.-494_-493dup, NM_001329947.2:c.-494_-493dup, NM_001329947.1:c.-494_-493dup, NM_001364701.2:c.-99_-98dup, NM_001364701.1:c.-99_-98dup, NM_001329945.2:c.-99_-98dup, NM_001329945.1:c.-99_-98dup, NM_001364700.1:c.-99_-98dup, XM_024449779.2:c.-494_-493dup, XM_024449779.1:c.-494_-493dup, XM_024449781.2:c.-494_-493dup, XM_024449781.1:c.-494_-493dup, XM_024449780.2:c.-494_-493dup, XM_024449780.1:c.-494_-493dup, XM_024449791.2:c.-494_-493dup, XM_024449791.1:c.-494_-493dup, XM_047432000.1:c.-494_-493dup, XM_047432003.1:c.-494_-493dup, XM_047432001.1:c.-494_-493dup, XM_047432006.1:c.-494_-493dup, XM_047432012.1:c.-494_-493dup, XM_047432002.1:c.-143_-142dup, XM_047432009.1:c.-494_-493dup, XM_047432005.1:c.-494_-493dup, XM_047432011.1:c.-494_-493dup, XM_047432015.1:c.-494_-493dup, XM_047432007.1:c.-494_-493dup, XM_047432013.1:c.-494_-493dup, XM_047432008.1:c.-494_-493dup, XM_047432014.1:c.-494_-493dup, XM_047432004.1:c.-494_-493dup, XM_047432010.1:c.-494_-493dup
18.
rs1490434047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:58427638
(GRCh38)
14:58894356
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58427637:G:A,NC_000014.9:58427637:G:C
- Gene:
- KIAA0586 (Varview), TIMM9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,splice_donor_variant
- Clinical significance:
- likely-pathogenic,uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000015/2
(GnomAD_exomes)
- HGVS:
19.
rs1490375694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:58426941
(GRCh38)
14:58893660
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58426941:T:TT
- Gene:
- KIAA0586 (Varview), TIMM9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490344268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
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- Chromosome:
- 14:58419123
(GRCh38)
14:58885841
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58419122:G:A
- Gene:
- TIMM9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: