Links from Gene
Items: 1 to 20 of 1000
1.
rs1491302451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:150577545
(GRCh38)
1:150550021
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150577543:ACA:A
- Gene:
- MCL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000052/6
(ExAC)
-=0.000062/13
(GnomAD_exomes)
-=0.000086/12
(GnomAD)
-=0.045847/170
(TWINSUK)
-=0.048262/186
(ALSPAC)
- HGVS:
2.
rs1490867890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:150579475
(GRCh38)
1:150551951
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150579474:G:A,NC_000001.11:150579474:G:C
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.150579475G>A, NC_000001.11:g.150579475G>C, NC_000001.10:g.150551951G>A, NC_000001.10:g.150551951G>C, NG_029146.1:g.5264C>T, NG_029146.1:g.5264C>G, NM_021960.5:c.56C>T, NM_021960.5:c.56C>G, NM_021960.4:c.56C>T, NM_021960.4:c.56C>G, NM_182763.3:c.56C>T, NM_182763.3:c.56C>G, NM_182763.2:c.56C>T, NM_182763.2:c.56C>G, NM_001197320.2:c.56C>T, NM_001197320.2:c.56C>G, NM_001197320.1:c.56C>T, NM_001197320.1:c.56C>G, NG_060197.1:g.63G>A, NG_060197.1:g.63G>C, NP_068779.1:p.Ala19Val, NP_068779.1:p.Ala19Gly, NP_877495.1:p.Ala19Val, NP_877495.1:p.Ala19Gly, NP_001184249.1:p.Ala19Val, NP_001184249.1:p.Ala19Gly
3.
rs1490666337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:150574769
(GRCh38)
1:150547246
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150574769:T:TT
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490609990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:150578340
(GRCh38)
1:150550816
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150578339:G:T
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1490307048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:150575752
(GRCh38)
1:150548228
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150575749:CACA:CA
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.00016/1
(1000Genomes)
- HGVS:
6.
rs1490274103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:150579148
(GRCh38)
1:150551624
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150579147:C:T
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1489822629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:150574377
(GRCh38)
1:150546853
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150574376:A:C
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489788850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:150576511
(GRCh38)
1:150548987
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150576510:C:T
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1489573720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:150575572
(GRCh38)
1:150548048
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150575571:C:T
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489522765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:150574722
(GRCh38)
1:150547198
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150574721:A:G
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488850960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:150581154
(GRCh38)
1:150553630
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150581153:C:A
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488836234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAGGTCTGTG>-
[Show Flanks]
- Chromosome:
- 1:150575692
(GRCh38)
1:150548168
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150575689:TGAAAGGTCTGTG:TG
- Gene:
- MCL1 (Varview), ADAMTSL4-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488703550 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:150580735
(GRCh38)
1:150553212
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150580735:A:AA
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488490247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:150579840
(GRCh38)
1:150552316
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150579839:G:A
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
15.
rs1488435303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:150580994
(GRCh38)
1:150553470
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150580993:T:G
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488258261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:150577692
(GRCh38)
1:150550168
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150577691:A:G,NC_000001.11:150577691:A:T
- Gene:
- MCL1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488207374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:150579606
(GRCh38)
1:150552082
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150579605:G:A,NC_000001.11:150579605:G:C
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.150579606G>A, NC_000001.11:g.150579606G>C, NC_000001.10:g.150552082G>A, NC_000001.10:g.150552082G>C, NG_029146.1:g.5133C>T, NG_029146.1:g.5133C>G, NM_021960.5:c.-76C>T, NM_021960.5:c.-76C>G, NM_021960.4:c.-76C>T, NM_021960.4:c.-76C>G, NM_182763.3:c.-76C>T, NM_182763.3:c.-76C>G, NM_182763.2:c.-76C>T, NM_182763.2:c.-76C>G, NM_001197320.2:c.-76C>T, NM_001197320.2:c.-76C>G, NM_001197320.1:c.-76C>T, NM_001197320.1:c.-76C>G, NG_060197.1:g.194G>A, NG_060197.1:g.194G>C
18.
rs1487731854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:150580015
(GRCh38)
1:150552491
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150580014:A:C
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
19.
rs1487563340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:150579859
(GRCh38)
1:150552335
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150579858:G:A,NC_000001.11:150579858:G:C,NC_000001.11:150579858:G:T
- Gene:
- MCL1 (Varview), LOC107985203 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
NC_000001.11:g.150579859G>A, NC_000001.11:g.150579859G>C, NC_000001.11:g.150579859G>T, NC_000001.10:g.150552335G>A, NC_000001.10:g.150552335G>C, NC_000001.10:g.150552335G>T, NG_029146.1:g.4880C>T, NG_029146.1:g.4880C>G, NG_029146.1:g.4880C>A, NG_060197.1:g.447G>A, NG_060197.1:g.447G>C, NG_060197.1:g.447G>T, XR_001738230.3:n.30G>A, XR_001738230.3:n.30G>C, XR_001738230.3:n.30G>T, XR_001738230.2:n.44G>A, XR_001738230.2:n.44G>C, XR_001738230.2:n.44G>T, XR_001738230.1:n.59G>A, XR_001738230.1:n.59G>C, XR_001738230.1:n.59G>T
20.
rs1487369881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:150577093
(GRCh38)
1:150549569
(GRCh37)
- Canonical SPDI:
- NC_000001.11:150577092:A:G
- Gene:
- MCL1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: