Links from Gene
Items: 1 to 20 of 4017
2.
rs1491381720 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:6561988
(GRCh38)
12:6671154
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6561987:AT:
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00003/1
(ExAC)
- HGVS:
3.
rs1491310205 has merged into rs1186896591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:6558153
(GRCh38)
12:6667319
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.6558153_6558165del, NC_000012.12:g.6558154_6558165del, NC_000012.12:g.6558155_6558165del, NC_000012.12:g.6558157_6558165del, NC_000012.12:g.6558158_6558165del, NC_000012.12:g.6558159_6558165del, NC_000012.12:g.6558160_6558165del, NC_000012.12:g.6558161_6558165del, NC_000012.12:g.6558162_6558165del, NC_000012.12:g.6558163_6558165del, NC_000012.12:g.6558164_6558165del, NC_000012.12:g.6558165del, NC_000012.12:g.6558165dup, NC_000012.12:g.6558164_6558165dup, NC_000012.12:g.6558163_6558165dup, NC_000012.12:g.6558162_6558165dup, NC_000012.12:g.6558161_6558165dup, NC_000012.12:g.6558160_6558165dup, NC_000012.12:g.6558159_6558165dup, NC_000012.12:g.6558158_6558165dup, NC_000012.12:g.6558157_6558165dup, NC_000012.12:g.6558156_6558165dup, NC_000012.12:g.6558153_6558165dup, NC_000012.12:g.6558151_6558165dup, NC_000012.12:g.6558144_6558165dup, NC_000012.12:g.6558141_6558165dup, NC_000012.12:g.6558165_6558166insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.6558165_6558166insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.6558141_6558165A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.6667319_6667331del, NC_000012.11:g.6667320_6667331del, NC_000012.11:g.6667321_6667331del, NC_000012.11:g.6667323_6667331del, NC_000012.11:g.6667324_6667331del, NC_000012.11:g.6667325_6667331del, NC_000012.11:g.6667326_6667331del, NC_000012.11:g.6667327_6667331del, NC_000012.11:g.6667328_6667331del, NC_000012.11:g.6667329_6667331del, NC_000012.11:g.6667330_6667331del, NC_000012.11:g.6667331del, NC_000012.11:g.6667331dup, NC_000012.11:g.6667330_6667331dup, NC_000012.11:g.6667329_6667331dup, NC_000012.11:g.6667328_6667331dup, NC_000012.11:g.6667327_6667331dup, NC_000012.11:g.6667326_6667331dup, NC_000012.11:g.6667325_6667331dup, NC_000012.11:g.6667324_6667331dup, NC_000012.11:g.6667323_6667331dup, NC_000012.11:g.6667322_6667331dup, NC_000012.11:g.6667319_6667331dup, NC_000012.11:g.6667317_6667331dup, NC_000012.11:g.6667310_6667331dup, NC_000012.11:g.6667307_6667331dup, NC_000012.11:g.6667331_6667332insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.6667331_6667332insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.6667307_6667331A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491176495 has merged into rs1186896591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:6558153
(GRCh38)
12:6667319
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:6558140:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.6558153_6558165del, NC_000012.12:g.6558154_6558165del, NC_000012.12:g.6558155_6558165del, NC_000012.12:g.6558157_6558165del, NC_000012.12:g.6558158_6558165del, NC_000012.12:g.6558159_6558165del, NC_000012.12:g.6558160_6558165del, NC_000012.12:g.6558161_6558165del, NC_000012.12:g.6558162_6558165del, NC_000012.12:g.6558163_6558165del, NC_000012.12:g.6558164_6558165del, NC_000012.12:g.6558165del, NC_000012.12:g.6558165dup, NC_000012.12:g.6558164_6558165dup, NC_000012.12:g.6558163_6558165dup, NC_000012.12:g.6558162_6558165dup, NC_000012.12:g.6558161_6558165dup, NC_000012.12:g.6558160_6558165dup, NC_000012.12:g.6558159_6558165dup, NC_000012.12:g.6558158_6558165dup, NC_000012.12:g.6558157_6558165dup, NC_000012.12:g.6558156_6558165dup, NC_000012.12:g.6558153_6558165dup, NC_000012.12:g.6558151_6558165dup, NC_000012.12:g.6558144_6558165dup, NC_000012.12:g.6558141_6558165dup, NC_000012.12:g.6558165_6558166insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.6558165_6558166insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.6558141_6558165A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.6667319_6667331del, NC_000012.11:g.6667320_6667331del, NC_000012.11:g.6667321_6667331del, NC_000012.11:g.6667323_6667331del, NC_000012.11:g.6667324_6667331del, NC_000012.11:g.6667325_6667331del, NC_000012.11:g.6667326_6667331del, NC_000012.11:g.6667327_6667331del, NC_000012.11:g.6667328_6667331del, NC_000012.11:g.6667329_6667331del, NC_000012.11:g.6667330_6667331del, NC_000012.11:g.6667331del, NC_000012.11:g.6667331dup, NC_000012.11:g.6667330_6667331dup, NC_000012.11:g.6667329_6667331dup, NC_000012.11:g.6667328_6667331dup, NC_000012.11:g.6667327_6667331dup, NC_000012.11:g.6667326_6667331dup, NC_000012.11:g.6667325_6667331dup, NC_000012.11:g.6667324_6667331dup, NC_000012.11:g.6667323_6667331dup, NC_000012.11:g.6667322_6667331dup, NC_000012.11:g.6667319_6667331dup, NC_000012.11:g.6667317_6667331dup, NC_000012.11:g.6667310_6667331dup, NC_000012.11:g.6667307_6667331dup, NC_000012.11:g.6667331_6667332insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.6667331_6667332insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.6667307_6667331A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491164675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA,TA
[Show Flanks]
- Chromosome:
- 12:6558141
(GRCh38)
12:6667308
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6558141:A:ACA,NC_000012.12:6558141:A:ATA
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATA=0./0
(
ALFA)
AT=0.00014/2
(GnomAD)
- HGVS:
7.
rs1490467299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:6565590
(GRCh38)
12:6674756
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6565589:T:C
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489555067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:6564342
(GRCh38)
12:6673508
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6564341:T:C
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
9.
rs1489539316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6556584
(GRCh38)
12:6665750
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6556583:C:T
- Gene:
- NOP2 (Varview), IFFO1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489079615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:6564042
(GRCh38)
12:6673208
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6564041:T:C
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488947803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:6568646
(GRCh38)
12:6677812
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6568645:A:G
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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.
rs1488817294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:6557199
(GRCh38)
12:6666365
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6557198:G:A,NC_000012.12:6557198:G:T
- Gene:
- NOP2 (Varview), IFFO1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
G=0.5/2
(SGDP_PRJ)
- HGVS:
NC_000012.12:g.6557199G>A, NC_000012.12:g.6557199G>T, NC_000012.11:g.6666365G>A, NC_000012.11:g.6666365G>T, NM_006170.4:c.2221C>T, NM_006170.4:c.2221C>A, NM_006170.3:c.2221C>T, NM_006170.3:c.2221C>A, NM_001033714.3:c.2221C>T, NM_001033714.3:c.2221C>A, NM_001033714.2:c.2221C>T, NM_001033714.2:c.2221C>A, NM_001258310.2:c.*456C>T, NM_001258310.2:c.*456C>A, NM_001258310.1:c.*456C>T, NM_001258310.1:c.*456C>A, NM_001258309.2:c.2332C>T, NM_001258309.2:c.2332C>A, NM_001258309.1:c.2332C>T, NM_001258309.1:c.2332C>A, NM_001258308.2:c.2233C>T, NM_001258308.2:c.2233C>A, NM_001258308.1:c.2233C>T, NM_001258308.1:c.2233C>A, NP_006161.2:p.His741Tyr, NP_006161.2:p.His741Asn, NP_001028886.1:p.His741Tyr, NP_001028886.1:p.His741Asn, NP_001245238.1:p.His778Tyr, NP_001245238.1:p.His778Asn, NP_001245237.1:p.His745Tyr, NP_001245237.1:p.His745Asn
13.
rs1488627935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:6570102
(GRCh38)
12:6679268
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6570101:A:G
- Gene:
- CHD4 (Varview), NOP2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000012.12:g.6570102A>G, NC_000012.11:g.6679268A>G, NG_052823.1:g.42338T>C, NM_001273.5:c.*574T>C, NM_001273.4:c.*574T>C, NM_001273.3:c.*574T>C, NM_001273.2:c.*574T>C, NM_001363606.2:c.*574T>C, NM_001363606.1:c.*574T>C, NM_001297553.2:c.*574T>C, NM_001297553.1:c.*574T>C
14.
rs1488617210 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:6569279
(GRCh38)
12:6678446
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6569279:TTTTTT:TTTTTTT
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488208442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:6558864
(GRCh38)
12:6668030
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6558863:C:G
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
16.
rs1488100076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6563574
(GRCh38)
12:6672740
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6563573:C:T
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488048963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:6569232
(GRCh38)
12:6678398
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6569231:A:T
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487968106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:6567973
(GRCh38)
12:6677139
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6567972:C:G
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487658366 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCATCAGCCCTT>-
[Show Flanks]
- Chromosome:
- 12:6563986
(GRCh38)
12:6673152
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6563979:GCCCTTCCATCAGCCCTT:GCCCTT
- Gene:
- NOP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1487643454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6569767
(GRCh38)
12:6678933
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6569766:C:T
- Gene:
- CHD4 (Varview), NOP2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: