Links from Gene
Items: 1 to 20 of 1000
1.
rs1491424594 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 3:9682933
(GRCh38)
3:9724617
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9682932:GC:
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
- HGVS:
2.
rs1491353307 has merged into rs4021721 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:9663512
(GRCh38)
3:9705196
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9663501:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.9663512_9663527del, NC_000003.12:g.9663513_9663527del, NC_000003.12:g.9663514_9663527del, NC_000003.12:g.9663515_9663527del, NC_000003.12:g.9663516_9663527del, NC_000003.12:g.9663517_9663527del, NC_000003.12:g.9663518_9663527del, NC_000003.12:g.9663519_9663527del, NC_000003.12:g.9663520_9663527del, NC_000003.12:g.9663521_9663527del, NC_000003.12:g.9663522_9663527del, NC_000003.12:g.9663523_9663527del, NC_000003.12:g.9663524_9663527del, NC_000003.12:g.9663525_9663527del, NC_000003.12:g.9663526_9663527del, NC_000003.12:g.9663527del, NC_000003.12:g.9663527dup, NC_000003.12:g.9663526_9663527dup, NC_000003.12:g.9663525_9663527dup, NC_000003.12:g.9663524_9663527dup, NC_000003.12:g.9663523_9663527dup, NC_000003.12:g.9663522_9663527dup, NC_000003.12:g.9663521_9663527dup, NC_000003.12:g.9663520_9663527dup, NC_000003.12:g.9663519_9663527dup, NC_000003.12:g.9663516_9663527dup, NC_000003.12:g.9663515_9663527dup, NC_000003.12:g.9663514_9663527dup, NC_000003.12:g.9663513_9663527dup, NC_000003.11:g.9705196_9705211del, NC_000003.11:g.9705197_9705211del, NC_000003.11:g.9705198_9705211del, NC_000003.11:g.9705199_9705211del, NC_000003.11:g.9705200_9705211del, NC_000003.11:g.9705201_9705211del, NC_000003.11:g.9705202_9705211del, NC_000003.11:g.9705203_9705211del, NC_000003.11:g.9705204_9705211del, NC_000003.11:g.9705205_9705211del, NC_000003.11:g.9705206_9705211del, NC_000003.11:g.9705207_9705211del, NC_000003.11:g.9705208_9705211del, NC_000003.11:g.9705209_9705211del, NC_000003.11:g.9705210_9705211del, NC_000003.11:g.9705211del, NC_000003.11:g.9705211dup, NC_000003.11:g.9705210_9705211dup, NC_000003.11:g.9705209_9705211dup, NC_000003.11:g.9705208_9705211dup, NC_000003.11:g.9705207_9705211dup, NC_000003.11:g.9705206_9705211dup, NC_000003.11:g.9705205_9705211dup, NC_000003.11:g.9705204_9705211dup, NC_000003.11:g.9705203_9705211dup, NC_000003.11:g.9705200_9705211dup, NC_000003.11:g.9705199_9705211dup, NC_000003.11:g.9705198_9705211dup, NC_000003.11:g.9705197_9705211dup, NG_017068.1:g.19080_19095del, NG_017068.1:g.19081_19095del, NG_017068.1:g.19082_19095del, NG_017068.1:g.19083_19095del, NG_017068.1:g.19084_19095del, NG_017068.1:g.19085_19095del, NG_017068.1:g.19086_19095del, NG_017068.1:g.19087_19095del, NG_017068.1:g.19088_19095del, NG_017068.1:g.19089_19095del, NG_017068.1:g.19090_19095del, NG_017068.1:g.19091_19095del, NG_017068.1:g.19092_19095del, NG_017068.1:g.19093_19095del, NG_017068.1:g.19094_19095del, NG_017068.1:g.19095del, NG_017068.1:g.19095dup, NG_017068.1:g.19094_19095dup, NG_017068.1:g.19093_19095dup, NG_017068.1:g.19092_19095dup, NG_017068.1:g.19091_19095dup, NG_017068.1:g.19090_19095dup, NG_017068.1:g.19089_19095dup, NG_017068.1:g.19088_19095dup, NG_017068.1:g.19087_19095dup, NG_017068.1:g.19084_19095dup, NG_017068.1:g.19083_19095dup, NG_017068.1:g.19082_19095dup, NG_017068.1:g.19081_19095dup
3.
rs1491185997 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC
[Show Flanks]
- Chromosome:
- 3:9663502
(GRCh38)
3:9705187
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9663502::C,NC_000003.12:9663502::CTC
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTC=0./0
(
ALFA)
CTC=0.000004/1
(TOPMED)
C=0.004411/303
(GnomAD)
- HGVS:
5.
rs1491020678 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 3:9694330
(GRCh38)
3:9736014
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9694328:CTC:C
- Gene:
- MTMR14 (Varview), LOC124909344 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000023/6
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
6.
rs1491017959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:9665373
(GRCh38)
3:9707058
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9665373:AAAA:AAAAA
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490988586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:9694163
(GRCh38)
3:9735847
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9694162:C:T
- Gene:
- MTMR14 (Varview), LOC124909344 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490919040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:9685828
(GRCh38)
3:9727512
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9685827:C:A
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490897274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:9693112
(GRCh38)
3:9734796
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9693111:G:A
- Gene:
- MTMR14 (Varview), LOC124909344 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000342/1
(KOREAN)
A=0.00463/1
(Vietnamese)
- HGVS:
10.
rs1490815670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:9702771
(GRCh38)
3:9744455
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9702770:G:A
- Gene:
- MTMR14 (Varview), CPNE9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490792842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:9668341
(GRCh38)
3:9710025
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9668340:A:G,NC_000003.12:9668340:A:T
- Gene:
- MTMR14 (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)
T=0.000035/1
(TOMMO)
- HGVS:
12.
rs1490750967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:9650659
(GRCh38)
3:9692343
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9650658:T:C
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490745184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:9662284
(GRCh38)
3:9703968
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9662283:A:G
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.9662284A>G, NC_000003.11:g.9703968A>G, NG_017068.1:g.17852A>G, NM_022485.5:c.326A>G, NM_022485.4:c.326A>G, NM_001077525.3:c.326A>G, NM_001077525.2:c.326A>G, NM_001077526.3:c.326A>G, NM_001077526.2:c.326A>G, NM_001400518.1:c.395A>G, NM_001400521.1:c.395A>G, NM_001400519.1:c.326A>G, NM_001400542.1:c.-241A>G, NM_001400520.1:c.326A>G, NM_001400534.1:c.-241A>G, NM_001400533.1:c.-180A>G, NM_001400525.1:c.44A>G, NM_001400538.1:c.-241A>G, NM_001400522.1:c.326A>G, NR_174504.1:n.405A>G, NM_001400526.1:c.395A>G, NM_001400523.1:c.326A>G, NM_001400541.1:c.-241A>G, NR_174503.1:n.405A>G, NR_174511.1:n.405A>G, NM_001400544.1:c.-253A>G, NM_001400535.1:c.-180A>G, NM_001400539.1:c.-180A>G, NM_001400547.1:c.-390A>G, NM_001400529.1:c.44A>G, NR_174507.1:n.405A>G, NR_174510.1:n.256A>G, NM_001400548.1:c.-314A>G, NR_174506.1:n.405A>G, NM_001400528.1:c.326A>G, NM_001400546.1:c.-241A>G, NM_001400543.1:c.-151A>G, NM_001400545.1:c.-180A>G, NR_174508.1:n.405A>G, NM_001400532.1:c.44A>G, NM_001400549.1:c.-241A>G, NM_001400537.1:c.44A>G, XM_017007041.2:c.44A>G, XM_017007041.1:c.44A>G, XM_011534013.2:c.-38A>G, XM_011534013.1:c.-38A>G, XR_007095717.1:n.405A>G, XR_007095718.1:n.405A>G, XR_007095719.1:n.369A>G, XM_047448719.1:c.44A>G, NP_071930.2:p.Gln109Arg, NP_001070993.1:p.Gln109Arg, NP_001070994.1:p.Gln109Arg, NP_001387447.1:p.Gln132Arg, NP_001387450.1:p.Gln132Arg, NP_001387448.1:p.Gln109Arg, NP_001387449.1:p.Gln109Arg, NP_001387454.1:p.Gln15Arg, NP_001387451.1:p.Gln109Arg, NP_001387455.1:p.Gln132Arg, NP_001387452.1:p.Gln109Arg, NP_001387458.1:p.Gln15Arg, NP_001387457.1:p.Gln109Arg, NP_001387461.1:p.Gln15Arg, NP_001387466.1:p.Gln15Arg, XP_016862530.1:p.Gln15Arg, XP_047304675.1:p.Gln15Arg
14.
rs1490744670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:9701567
(GRCh38)
3:9743251
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9701566:C:G,NC_000003.12:9701566:C:T
- Gene:
- MTMR14 (Varview), LOC124909344 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
- HGVS:
16.
rs1490665484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:9671918
(GRCh38)
3:9713602
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9671917:C:T
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000064/9
(GnomAD)
T=0.000094/25
(TOPMED)
- HGVS:
17.
rs1490660551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:9672228
(GRCh38)
3:9713912
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9672227:A:C
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490629621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:9669288
(GRCh38)
3:9710972
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9669287:A:T
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
19.
rs1490595439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:9700591
(GRCh38)
3:9742275
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9700590:A:G
- Gene:
- MTMR14 (Varview), LOC124909344 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1490405351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:9692550
(GRCh38)
3:9734234
(GRCh37)
- Canonical SPDI:
- NC_000003.12:9692549:T:C
- Gene:
- MTMR14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: