Links from Protein
Items: 1 to 20 of 171
1.
rs1486225662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:44623895
(GRCh38)
19:45127192
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623894:A:C
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
2.
rs1486193801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:44613657
(GRCh38)
19:45116967
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44613656:A:T
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000113/4
(
ALFA)
T=0.000007/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
4.
rs1477075153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:44613744
(GRCh38)
19:45117054
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44613743:T:C
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
5.
rs1475853447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44623758
(GRCh38)
19:45127055
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623757:C:T
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1475791938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:44623828
(GRCh38)
19:45127125
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623827:T:G
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
7.
rs1475645694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCATCGGGCTCC
[Show Flanks]
- Chromosome:
- 19:44627490
(GRCh38)
19:45130788
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627490:GCCATCGGGCTCC:GCCATCGGGCTCCGCCATCGGGCTCC
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
GCCATCGGGCTCC=0.00002/3
(GnomAD_exomes)
- HGVS:
8.
rs1474812235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:44627571
(GRCh38)
19:45130868
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627570:A:C
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
9.
rs1469688527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:44623912
(GRCh38)
19:45127209
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623911:T:G
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
10.
rs1462426263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:44623710
(GRCh38)
19:45127007
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623709:C:A
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0./0
(Korea1K)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1460863835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44627497
(GRCh38)
19:45130794
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627496:G:A
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000034/5
(GnomAD_exomes)
A=0.000106/2
(TOMMO)
- HGVS:
12.
rs1456401639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44623948
(GRCh38)
19:45127245
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623947:G:A
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1453490078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44627483
(GRCh38)
19:45130780
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627482:G:A
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1452762045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:44623955
(GRCh38)
19:45127252
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623954:T:C
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
16.
rs1439594960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:44627433
(GRCh38)
19:45130730
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627432:G:A,NC_000019.10:44627432:G:T
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.44627433G>A, NC_000019.10:g.44627433G>T, NC_000019.9:g.45130730G>A, NC_000019.9:g.45130730G>T, NG_030649.2:g.18872G>A, NG_030649.2:g.18872G>T, NG_030649.1:g.18791G>A, NG_030649.1:g.18791G>T, NM_001205280.2:c.405G>A, NM_001205280.2:c.405G>T, NM_001205280.1:c.405G>A, NM_001205280.1:c.405G>T, NP_001192209.1:p.Gln135His
17.
rs1436820172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44613696
(GRCh38)
19:45117006
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44613695:G:A
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1434550785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44635408
(GRCh38)
19:45138708
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44635407:A:G
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1433100330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:44623860
(GRCh38)
19:45127157
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44623859:A:T
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.00002/3
(GnomAD_exomes)
- HGVS:
20.
rs1432007419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44627526
(GRCh38)
19:45130823
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44627525:C:T
- Gene:
- IGSF23 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000031/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000014/2
(GnomAD_exomes)
- HGVS: