Links from Nucleotide
Items: 1 to 20 of 3585
1.
rs1491115260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCG,TGTGCG,TGTGTGTGCG,TGTGTGTGTGCG,TGTGTGTGTGG,TGTGTGTGTGTGCG,TGTGTGTGTGTGTGCG
[Show Flanks]
- Chromosome:
- 20:2661202
(GRCh38)
20:2641849
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2661202:G:GTGCG,NC_000020.11:2661202:G:GTGTGCG,NC_000020.11:2661202:G:GTGTGTGTGCG,NC_000020.11:2661202:G:GTGTGTGTGTGCG,NC_000020.11:2661202:G:GTGTGTGTGTGG,NC_000020.11:2661202:G:GTGTGTGTGTGTGCG,NC_000020.11:2661202:G:GTGTGTGTGTGTGTGCG
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGCG=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.2661203_2661204insTGCG, NC_000020.11:g.2661203GT[2]GCG[1], NC_000020.11:g.2661203GT[4]GCG[1], NC_000020.11:g.2661203GT[5]GCG[1], NC_000020.11:g.2661203GT[5]GG[1], NC_000020.11:g.2661203GT[6]GCG[1], NC_000020.11:g.2661203GT[7]GCG[1], NC_000020.10:g.2641849_2641850insTGCG, NC_000020.10:g.2641849GT[2]GCG[1], NC_000020.10:g.2641849GT[4]GCG[1], NC_000020.10:g.2641849GT[5]GCG[1], NC_000020.10:g.2641849GT[5]GG[1], NC_000020.10:g.2641849GT[6]GCG[1], NC_000020.10:g.2641849GT[7]GCG[1], NG_012149.1:g.7995_7996insGCAC, NG_012149.1:g.7995_7996insGCACAC, NG_012149.1:g.7995_7996insGCACACACAC, NG_012149.1:g.7995_7996insGCACACACACAC, NG_012149.1:g.7995_7996insCACACACACAC, NG_012149.1:g.7995_7996insGCACACACACACAC, NG_012149.1:g.7995_7996insGCACACACACACACAC
2.
rs1490731942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:2666168
(GRCh38)
20:2646814
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2666167:C:T
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490663086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:2659084
(GRCh38)
20:2639730
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2659083:C:A,NC_000020.11:2659083:C:T
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000020.11:g.2659084C>A, NC_000020.11:g.2659084C>T, NC_000020.10:g.2639730C>A, NC_000020.10:g.2639730C>T, NG_032136.1:g.11553C>A, NG_032136.1:g.11553C>T, NG_012149.1:g.10114G>T, NG_012149.1:g.10114G>A, NM_001258384.3:c.*169G>T, NM_001258384.3:c.*169G>A, NM_001258384.2:c.*169G>T, NM_001258384.2:c.*169G>A, NM_001258384.1:c.*169G>T, NM_001258384.1:c.*169G>A
4.
rs1490327684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:2661730
(GRCh38)
20:2642376
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2661728:ACA:A
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489525851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:2657152
(GRCh38)
20:2637798
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2657151:G:C
- Gene:
- NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview)
- Functional Consequence:
- missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.2657152G>C, NC_000020.10:g.2637798G>C, NG_032136.1:g.9621G>C, NM_006392.4:c.1353G>C, NM_006392.3:c.1353G>C, NR_027700.3:n.1562G>C, NR_027700.2:n.1662G>C, NR_145428.2:n.1382G>C, NR_145428.1:n.1482G>C, NG_012149.1:g.12046C>G, NP_006383.2:p.Lys451Asn
6.
rs1489473491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:2656499
(GRCh38)
20:2637145
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2656498:G:A
- Gene:
- NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORD86 (Varview)
- Functional Consequence:
- missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.2656499G>A, NC_000020.10:g.2637145G>A, NG_032136.1:g.8968G>A, NM_006392.4:c.1109G>A, NM_006392.3:c.1109G>A, NR_027700.3:n.1318G>A, NR_027700.2:n.1418G>A, NR_145428.2:n.1138G>A, NR_145428.1:n.1238G>A, NG_012149.1:g.12699C>T, NP_006383.2:p.Arg370Gln
7.
rs1489331461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:2668967
(GRCh38)
20:2649613
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2668966:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1489150846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:2661215
(GRCh38)
20:2641861
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2661214:G:C
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488476444 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 20:2666532
(GRCh38)
20:2647178
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2666529:AGGAG:AG
- Validated:
- by frequency,by alfa
- MAF:
AG=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
10.
rs1488468461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:2663224
(GRCh38)
20:2643870
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2663223:G:A
- Gene:
- IDH3B (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:
11.
rs1487949835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:2657281
(GRCh38)
20:2637927
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2657280:A:G
- Gene:
- NOP56 (Varview), SNORD57 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486838963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:2659781
(GRCh38)
20:2640427
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2659780:G:A
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- HGVS:
NC_000020.11:g.2659781G>A, NC_000020.10:g.2640427G>A, NG_032136.1:g.12250G>A, NG_012149.1:g.9417C>T, NM_006899.5:c.928C>T, NM_006899.4:c.928C>T, NM_006899.3:c.928C>T, NM_174855.4:c.928C>T, NM_174855.3:c.928C>T, NM_174855.2:c.928C>T, NM_001258384.3:c.928C>T, NM_001258384.2:c.928C>T, NM_001258384.1:c.928C>T, NR_136344.2:n.956C>T, NR_136344.1:n.963C>T, NM_001330763.2:c.928C>T, NM_001330763.1:c.928C>T, NM_174856.1:c.472C>T, XR_001754265.1:n.918C>T, NP_008830.2:p.Pro310Ser, NP_777280.1:p.Pro310Ser, NP_001245313.1:p.Pro310Ser, NP_001317692.1:p.Pro310Ser
13.
rs1486275135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:2659303
(GRCh38)
20:2639949
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2659302:C:G,NC_000020.11:2659302:C:T
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
G=0./0
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000020.11:g.2659303C>G, NC_000020.11:g.2659303C>T, NC_000020.10:g.2639949C>G, NC_000020.10:g.2639949C>T, NG_032136.1:g.11772C>G, NG_032136.1:g.11772C>T, NG_012149.1:g.9895G>C, NG_012149.1:g.9895G>A, NM_001258384.3:c.1081G>C, NM_001258384.3:c.1081G>A, NM_001258384.2:c.1081G>C, NM_001258384.2:c.1081G>A, NM_001258384.1:c.1081G>C, NM_001258384.1:c.1081G>A, NP_001245313.1:p.Ala361Pro, NP_001245313.1:p.Ala361Thr
14.
rs1486119253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:2656617
(GRCh38)
20:2637263
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2656616:A:G
- Gene:
- NOP56 (Varview), SNORD57 (Varview), SNORD56 (Varview), SNORD86 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485991371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:2666057
(GRCh38)
20:2646703
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2666056:C:G
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485884630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:2662184
(GRCh38)
20:2642830
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2662183:T:C
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1485554142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:2663475
(GRCh38)
20:2644121
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2663474:G:T
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.2663475G>T, NC_000020.10:g.2644121G>T, NG_012149.1:g.5723C>A, NM_006899.5:c.308C>A, NM_006899.4:c.308C>A, NM_006899.3:c.308C>A, NM_174855.4:c.308C>A, NM_174855.3:c.308C>A, NM_174855.2:c.308C>A, NM_001258384.3:c.308C>A, NM_001258384.2:c.308C>A, NM_001258384.1:c.308C>A, NR_136344.2:n.336C>A, NR_136344.1:n.343C>A, NM_001330763.2:c.308C>A, NM_001330763.1:c.308C>A, NM_174856.1:c.-255C>A, XR_001754265.1:n.336C>A, NP_008830.2:p.Ser103Tyr, NP_777280.1:p.Ser103Tyr, NP_001245313.1:p.Ser103Tyr, NP_001317692.1:p.Ser103Tyr
18.
rs1485536279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:2669069
(GRCh38)
20:2649715
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2669068:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000142/2
(TOMMO)
C=0.001027/3
(KOREAN)
- HGVS:
19.
rs1485373969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTGCGTGTG,TGTGTGCGTGTG
[Show Flanks]
- Chromosome:
- 20:2661206
(GRCh38)
20:2641853
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2661206:GTGTG:GTGTGTGTGCGTGTG,NC_000020.11:2661206:GTGTG:GTGTGTGTGTGCGTGTG
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGCGTGTG=0./0
(
ALFA)
GTGTGTGTGC=0.000022/3
(GnomAD)
- HGVS:
20.
rs1485115684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:2664920
(GRCh38)
20:2645566
(GRCh37)
- Canonical SPDI:
- NC_000020.11:2664919:C:G
- Gene:
- IDH3B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: