Links from Gene
Items: 1 to 20 of 1000
1.
rs1490906786 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 22:46355445
(GRCh38)
22:46751342
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46355444:CCCCCC:CCCCC,NC_000022.11:46355444:CCCCCC:CCCCCCC
- Gene:
- TRMU (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
- Clinical significance:
- likely-pathogenic
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
NC_000022.11:g.46355450del, NC_000022.11:g.46355450dup, NC_000022.10:g.46751347del, NC_000022.10:g.46751347dup, NG_012173.1:g.25050del, NG_012173.1:g.25050dup, NM_018006.5:c.880del, NM_018006.5:c.880dup, NM_018006.4:c.880del, NM_018006.4:c.880dup, NR_104240.2:n.876del, NR_104240.2:n.876dup, NR_104240.1:n.1189del, NR_104240.1:n.1189dup, NM_001282785.2:c.880del, NM_001282785.2:c.880dup, NM_001282785.1:c.880del, NM_001282785.1:c.880dup, NM_001282782.2:c.538del, NM_001282782.2:c.538dup, NM_001282782.1:c.538del, NM_001282782.1:c.538dup, NR_104241.2:n.769del, NR_104241.2:n.769dup, NR_104241.1:n.1082del, NR_104241.1:n.1082dup, NM_001282783.2:c.460del, NM_001282783.2:c.460dup, NM_001282783.1:c.460del, NM_001282783.1:c.460dup, NM_001282784.2:c.460del, NM_001282784.2:c.460dup, NM_001282784.1:c.460del, NM_001282784.1:c.460dup, XM_011530272.3:c.779del, XM_011530272.3:c.779dup, XM_011530272.2:c.779del, XM_011530272.2:c.779dup, XM_011530272.1:c.779del, XM_011530272.1:c.779dup, XM_011530273.3:c.779del, XM_011530273.3:c.779dup, XM_011530273.2:c.779del, XM_011530273.2:c.779dup, XM_011530273.1:c.779del, XM_011530273.1:c.779dup, NM_001008568.2:c.*324del, NM_001008568.2:c.*324dup, NM_001008569.2:c.*473del, NM_001008569.2:c.*473dup, NM_001008570.2:c.*418del, NM_001008570.2:c.*418dup, NM_001008571.2:c.*414del, NM_001008571.2:c.*414dup, NM_001008568.1:c.*324del, NM_001008568.1:c.*324dup, NM_001008569.1:c.*473del, NM_001008569.1:c.*473dup, NM_001008570.1:c.*418del, NM_001008570.1:c.*418dup, NM_001008571.1:c.*414del, NM_001008571.1:c.*414dup, XM_047441444.1:c.484del, XM_047441444.1:c.484dup, XM_047441445.1:c.538del, XM_047441445.1:c.538dup, XM_047441446.1:c.484del, XM_047441446.1:c.484dup, NP_060476.2:p.Arg294fs, NP_060476.2:p.Arg294fs, NP_001269714.1:p.Arg294fs, NP_001269714.1:p.Arg294fs, NP_001269711.1:p.Arg180fs, NP_001269711.1:p.Arg180fs, NP_001269712.1:p.Arg154fs, NP_001269712.1:p.Arg154fs, NP_001269713.1:p.Arg154fs, NP_001269713.1:p.Arg154fs, XP_011528574.1:p.Pro260fs, XP_011528574.1:p.Asp261fs, XP_011528575.1:p.Pro260fs, XP_011528575.1:p.Asp261fs, XP_047297400.1:p.Arg162fs, XP_047297400.1:p.Arg162fs, XP_047297401.1:p.Arg180fs, XP_047297401.1:p.Arg180fs, XP_047297402.1:p.Arg162fs, XP_047297402.1:p.Arg162fs
2.
rs1490865266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 22:46338280
(GRCh38)
22:46734177
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46338279:T:A,NC_000022.11:46338279:T:C
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490849479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:46350846
(GRCh38)
22:46746743
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46350845:C:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490804937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46356130
(GRCh38)
22:46752027
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46356129:G:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS:
5.
rs1490787412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46339105
(GRCh38)
22:46735002
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46339104:G:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000447/2
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
6.
rs1490402152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:46351701
(GRCh38)
22:46747598
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46351700:G:C
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490350714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46351107
(GRCh38)
22:46747004
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46351106:G:A
- Gene:
- TRMU (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:
8.
rs1490297645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46338077
(GRCh38)
22:46733974
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46338076:G:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489991649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46355823
(GRCh38)
22:46751720
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46355822:A:G
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489779483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46350548
(GRCh38)
22:46746445
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46350547:C:T
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489759540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46352747
(GRCh38)
22:46748644
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46352746:C:T
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
12.
rs1489643441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCGC
[Show Flanks]
- Chromosome:
- 22:46352042
(GRCh38)
22:46747940
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46352042:GCCCGC:GCCCGCCCGC
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCCGCCCGC=0.000071/1
(
ALFA)
GCCC=0.000019/5
(TOPMED)
GCCC=0.000021/3
(GnomAD)
- HGVS:
13.
rs1489587795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46340038
(GRCh38)
22:46735935
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46340037:T:C
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489558898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 22:46344059
(GRCh38)
22:46739956
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46344058:A:G,NC_000022.11:46344058:A:T
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489513290 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATCA
[Show Flanks]
- Chromosome:
- 22:46349998
(GRCh38)
22:46745896
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46349998:ATCA:ATCAATCA
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATCAATCA=0./0
(
ALFA)
ATCA=0.000008/2
(TOPMED)
ATCA=0.000035/1
(TOMMO)
- HGVS:
16.
rs1489455780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46341943
(GRCh38)
22:46737840
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46341942:G:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489421118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:46333842
(GRCh38)
22:46729739
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46333841:A:C
- Gene:
- TRMU (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1489218326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:46354832
(GRCh38)
22:46750729
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46354831:G:T
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489000508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46349653
(GRCh38)
22:46745550
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46349652:G:A
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1488995732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46336898
(GRCh38)
22:46732795
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46336897:T:C
- Gene:
- TRMU (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: