Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491515859 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAAAC,AC,C
[Show Flanks]
- Chromosome:
- 2:58202261
(GRCh38)
2:58429397
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58202261::AAAAC,NC_000002.12:58202261::AC,NC_000002.12:58202261::C
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
AAAAC=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491341842 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:58180882
(GRCh38)
2:58408018
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58180882:A:AA
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
3.
rs1491308494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:58180885
(GRCh38)
2:58408020
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58180881:GAGAG:GAG
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000546/1
(Korea1K)
- HGVS:
4.
rs1491151639 has merged into rs1553458510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- 2:58236485
(GRCh38)
2:58463620
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58236473:ACACACACACACACA:ACACACACACA,NC_000002.12:58236473:ACACACACACACACA:ACACACACACACA,NC_000002.12:58236473:ACACACACACACACA:ACACACACACACACACA
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
AC=0.000142/2
(TOMMO)
- HGVS:
5.
rs1491088217 has merged into rs11427269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 2:58215716
(GRCh38)
2:58442851
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:58215704:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.03069/17
(NorthernSweden)
A=0.075/3
(GENOME_DK)
A=0.20946/1049
(1000Genomes)
- HGVS:
NC_000002.12:g.58215716_58215718del, NC_000002.12:g.58215717_58215718del, NC_000002.12:g.58215718del, NC_000002.12:g.58215718dup, NC_000002.12:g.58215717_58215718dup, NC_000002.12:g.58215716_58215718dup, NC_000002.12:g.58215715_58215718dup, NC_000002.11:g.58442851_58442853del, NC_000002.11:g.58442852_58442853del, NC_000002.11:g.58442853del, NC_000002.11:g.58442853dup, NC_000002.11:g.58442852_58442853dup, NC_000002.11:g.58442851_58442853dup, NC_000002.11:g.58442850_58442853dup, NG_007418.1:g.30673_30675del, NG_007418.1:g.30674_30675del, NG_007418.1:g.30675del, NG_007418.1:g.30675dup, NG_007418.1:g.30674_30675dup, NG_007418.1:g.30673_30675dup, NG_007418.1:g.30672_30675dup
6.
rs1491062620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:58167507
(GRCh38)
2:58394642
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58167504:AGAG:AG
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
7.
rs1490968806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:58229309
(GRCh38)
2:58456445
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58229309:A:AA
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000142/2
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000079/21
(TOPMED)
- HGVS:
8.
rs1490932431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:58229828
(GRCh38)
2:58456963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58229827:G:A
- Gene:
- FANCL (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
- Clinical significance:
- pathogenic-likely-pathogenic
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
NC_000002.12:g.58229828G>A, NC_000002.11:g.58456963G>A, NG_007418.1:g.16552C>T, NM_018062.4:c.202C>T, NM_018062.3:c.202C>T, NM_001114636.1:c.202C>T, NM_001410792.1:c.202C>T, NM_001374615.1:c.202C>T, NR_164659.1:n.196C>T, XM_005264395.5:c.202C>T, XM_005264395.4:c.202C>T, XM_005264395.3:c.202C>T, XM_005264395.2:c.202C>T, XM_005264395.1:c.202C>T, XM_011532939.4:c.202C>T, XM_011532939.3:c.202C>T, XM_011532939.2:c.202C>T, XM_011532939.1:c.202C>T, XM_011532940.4:c.202C>T, XM_011532940.3:c.202C>T, XM_011532940.2:c.202C>T, XM_011532940.1:c.202C>T, XM_011532942.4:c.202C>T, XM_011532942.3:c.202C>T, XM_011532942.2:c.202C>T, XM_011532942.1:c.202C>T, XM_011532941.3:c.202C>T, XR_007077528.1:n.269C>T, XM_047444852.1:c.202C>T, NP_060532.2:p.Arg68Ter, NP_001108108.1:p.Arg68Ter, NP_001361544.1:p.Arg68Ter, XP_005264452.1:p.Arg68Ter, XP_011531241.1:p.Arg68Ter, XP_011531242.1:p.Arg68Ter, XP_011531244.1:p.Arg68Ter, XP_011531243.1:p.Arg68Ter, XP_047300808.1:p.Arg68Ter
9.
rs1490925803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:58222390
(GRCh38)
2:58449525
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58222389:A:G
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490925460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:58198962
(GRCh38)
2:58426097
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58198961:G:A
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
11.
rs1490867978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:58211300
(GRCh38)
2:58438435
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58211299:G:A,NC_000002.12:58211299:G:C,NC_000002.12:58211299:G:T
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490842317 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 2:58163303
(GRCh38)
2:58390438
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58163302:AA:
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490833107 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATACACACACACA>-
[Show Flanks]
- Chromosome:
- 2:58217201
(GRCh38)
2:58444336
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58217199:ATATATATATATATATACACACACACA:A
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
-=0.00075/11
(TOMMO)
-=0.00089/1
(Korea1K)
-=0.01079/96
(GnomAD)
- HGVS:
14.
rs1490760091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:58245550
(GRCh38)
2:58472685
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58245548:TGT:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
15.
rs1490749255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:58243306
(GRCh38)
2:58470441
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58243305:C:T
- Gene:
- FANCL (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490745792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:58191922
(GRCh38)
2:58419057
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58191921:C:G,NC_000002.12:58191921:C:T
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490708348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:58237374
(GRCh38)
2:58464509
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58237373:T:C
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000035/1
(TOMMO)
C=0.000045/12
(TOPMED)
C=0.000057/8
(GnomAD)
- HGVS:
18.
rs1490700728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:58191116
(GRCh38)
2:58418251
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58191115:C:A,NC_000002.12:58191115:C:T
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490659590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:58186636
(GRCh38)
2:58413771
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58186635:G:A
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490616280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:58230504
(GRCh38)
2:58457639
(GRCh37)
- Canonical SPDI:
- NC_000002.12:58230503:T:A
- Gene:
- FANCL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: