Links from Gene
Items: 1 to 20 of 1694
1.
rs1491566939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAGT
[Show Flanks]
- Chromosome:
- 3:49023689
(GRCh38)
3:49061123
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49023689:TGAGT:TGAGTGAGT
- Gene:
- NDUFAF3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TGAGTGAGT=0./0
(
ALFA)
TGAG=0.000009/1
(GnomAD)
- HGVS:
2.
rs1491150089 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:49023689
(GRCh38)
3:49061122
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49023688:AT:
- Gene:
- NDUFAF3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
3.
rs1490448363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:49022828
(GRCh38)
3:49060261
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49022827:G:T
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1490347956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:49020702
(GRCh38)
3:49058135
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49020701:T:C
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000011/2
(GnomAD_exomes)
- HGVS:
5.
rs1490334165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49023161
(GRCh38)
3:49060594
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49023160:G:A
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.49023161G>A, NC_000003.11:g.49060594G>A, NG_033126.1:g.2911C>T, NG_012091.1:g.11282C>T, NG_016282.1:g.7687G>A, NM_199073.2:c.373G>A, NM_199073.1:c.373G>A, NM_199070.2:c.373G>A, NM_199070.1:c.373G>A, NM_199074.2:c.373G>A, NM_199074.1:c.373G>A, NM_199069.2:c.544G>A, NM_199069.1:c.544G>A, NM_199417.1:c.373G>A, NP_951047.1:p.Ala125Thr, NP_951033.1:p.Ala125Thr, NP_951056.1:p.Ala125Thr, NP_951032.1:p.Ala182Thr
6.
rs1490281636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:49022531
(GRCh38)
3:49059964
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49022530:A:G
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.49022531A>G, NC_000003.11:g.49059964A>G, NG_033126.1:g.3541T>C, NG_012091.1:g.11912T>C, NG_016282.1:g.7057A>G, NM_199073.2:c.92A>G, NM_199073.1:c.92A>G, NM_199070.2:c.92A>G, NM_199070.1:c.92A>G, NM_199074.2:c.92A>G, NM_199074.1:c.92A>G, NM_199069.2:c.263A>G, NM_199069.1:c.263A>G, NM_199417.1:c.92A>G, NP_951047.1:p.Gln31Arg, NP_951033.1:p.Gln31Arg, NP_951056.1:p.Gln31Arg, NP_951032.1:p.Gln88Arg
8.
rs1489455398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49019524
(GRCh38)
3:49056957
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49019523:G:A
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489195275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:49018629
(GRCh38)
3:49056062
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49018628:C:G,NC_000003.12:49018628:C:T
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.49018629C>G, NC_000003.12:g.49018629C>T, NC_000003.11:g.49056062C>G, NC_000003.11:g.49056062C>T, NG_033126.1:g.7443G>C, NG_033126.1:g.7443G>A, NG_016282.1:g.3155C>G, NG_016282.1:g.3155C>T, XM_047448436.1:c.-65G>C, XM_047448436.1:c.-65G>A, XM_047448437.1:c.-65G>C, XM_047448437.1:c.-65G>A
10.
rs1488725207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:49018873
(GRCh38)
3:49056307
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49018873:T:TT
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487701395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49020950
(GRCh38)
3:49058383
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49020949:G:A
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.0001/14
(GnomAD)
- HGVS:
NC_000003.12:g.49020950G>A, NC_000003.11:g.49058383G>A, NG_033126.1:g.5122C>T, NM_018114.6:c.-441C>T, NM_018114.5:c.-441C>T, NG_016282.1:g.5476G>A, XM_006713219.3:c.-595C>T, XM_006713219.2:c.-595C>T, XM_006713219.1:c.-595C>T, XM_017006723.2:c.-595C>T, XM_017006723.1:c.-595C>T, XM_047448436.1:c.-976C>T, XM_047448437.1:c.-976C>T, XM_047448438.1:c.-595C>T
13.
rs1487651298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 3:49018679
(GRCh38)
3:49056112
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49018678:C:A,NC_000003.12:49018678:C:G
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.49018679C>A, NC_000003.12:g.49018679C>G, NC_000003.11:g.49056112C>A, NC_000003.11:g.49056112C>G, NG_033126.1:g.7393G>T, NG_033126.1:g.7393G>C, NG_016282.1:g.3205C>A, NG_016282.1:g.3205C>G, XM_047448436.1:c.-115G>T, XM_047448436.1:c.-115G>C, XM_047448437.1:c.-115G>T, XM_047448437.1:c.-115G>C
14.
rs1487040090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49019445
(GRCh38)
3:49056878
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49019444:C:T
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486706109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49020793
(GRCh38)
3:49058226
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49020792:G:A
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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:
17.
rs1486371497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49021375
(GRCh38)
3:49058808
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49021374:C:T
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
NC_000003.12:g.49021375C>T, NC_000003.11:g.49058808C>T, NG_033126.1:g.4697G>A, NM_018114.6:c.-866G>A, NG_016282.1:g.5901C>T, NM_199073.2:c.-119C>T, NM_199073.1:c.-119C>T, XM_006713219.3:c.-1020G>A, XM_017006723.2:c.-1020G>A, XM_047448436.1:c.-1401G>A, XM_047448437.1:c.-1401G>A, XM_047448438.1:c.-1020G>A
18.
rs1485775281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:49020879
(GRCh38)
3:49058312
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49020878:G:A,NC_000003.12:49020878:G:T
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.49020879G>A, NC_000003.12:g.49020879G>T, NC_000003.11:g.49058312G>A, NC_000003.11:g.49058312G>T, NG_033126.1:g.5193C>T, NG_033126.1:g.5193C>A, NM_018114.6:c.-370C>T, NM_018114.6:c.-370C>A, NM_018114.5:c.-370C>T, NM_018114.5:c.-370C>A, NG_016282.1:g.5405G>A, NG_016282.1:g.5405G>T, XM_006713219.3:c.-524C>T, XM_006713219.3:c.-524C>A, XM_006713219.2:c.-524C>T, XM_006713219.2:c.-524C>A, XM_006713219.1:c.-524C>T, XM_006713219.1:c.-524C>A, XM_017006723.2:c.-524C>T, XM_017006723.2:c.-524C>A, XM_017006723.1:c.-524C>T, XM_017006723.1:c.-524C>A, XM_047448436.1:c.-905C>T, XM_047448436.1:c.-905C>A, XM_047448437.1:c.-905C>T, XM_047448437.1:c.-905C>A, XM_047448438.1:c.-524C>T, XM_047448438.1:c.-524C>A
19.
rs1485297862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:49021163
(GRCh38)
3:49058596
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49021162:T:C
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview), MIR425 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
NC_000003.12:g.49021163T>C, NC_000003.11:g.49058596T>C, NG_033126.1:g.4909A>G, NM_018114.6:c.-654A>G, NG_016282.1:g.5689T>C, NM_199073.2:c.-331T>C, XM_006713219.3:c.-808A>G, XM_017006723.2:c.-808A>G, XM_047448436.1:c.-1189A>G, XM_047448437.1:c.-1189A>G, XM_047448438.1:c.-808A>G
20.
rs1485143287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:49022470
(GRCh38)
3:49059903
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49022469:T:G
- Gene:
- NDUFAF3 (Varview), DALRD3 (Varview), MIR191 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.49022470T>G, NC_000003.11:g.49059903T>G, NG_033126.1:g.3602A>C, NG_012091.1:g.11973A>C, NG_016282.1:g.6996T>G, NM_199073.2:c.31T>G, NM_199073.1:c.31T>G, NM_199070.2:c.31T>G, NM_199070.1:c.31T>G, NM_199074.2:c.31T>G, NM_199074.1:c.31T>G, NM_199069.2:c.202T>G, NM_199069.1:c.202T>G, NM_199417.1:c.31T>G, NP_951047.1:p.Phe11Val, NP_951033.1:p.Phe11Val, NP_951056.1:p.Phe11Val, NP_951032.1:p.Phe68Val