Links from Protein
Items: 1 to 20 of 138
1.
rs1478702615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36393964
(GRCh38)
1:36859565
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393963:T:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1463544168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:36393931
(GRCh38)
1:36859532
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393930:C:A,NC_000001.11:36393930:C:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
NC_000001.11:g.36393931C>A, NC_000001.11:g.36393931C>T, NC_000001.10:g.36859532C>A, NC_000001.10:g.36859532C>T, NM_032881.3:c.199G>T, NM_032881.3:c.199G>A, NM_032881.2:c.199G>T, NM_032881.2:c.199G>A, NM_032881.1:c.199G>T, NM_032881.1:c.199G>A, NP_116270.1:p.Val67Phe, NP_116270.1:p.Val67Ile
3.
rs1463413035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36393904
(GRCh38)
1:36859505
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393903:C:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1445791132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36393991
(GRCh38)
1:36859592
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393990:C:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1445479549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:36393921
(GRCh38)
1:36859522
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393920:T:C,NC_000001.11:36393920:T:G
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000031/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.36393921T>C, NC_000001.11:g.36393921T>G, NC_000001.10:g.36859522T>C, NC_000001.10:g.36859522T>G, NM_032881.3:c.209A>G, NM_032881.3:c.209A>C, NM_032881.2:c.209A>G, NM_032881.2:c.209A>C, NM_032881.1:c.209A>G, NM_032881.1:c.209A>C, NP_116270.1:p.Asp70Gly, NP_116270.1:p.Asp70Ala
6.
rs1439612586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36393957
(GRCh38)
1:36859558
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393956:G:A
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1434996993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:36393788
(GRCh38)
1:36859389
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393787:C:A,NC_000001.11:36393787:C:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1430864685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36393933
(GRCh38)
1:36859534
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393932:T:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1424877884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36394001
(GRCh38)
1:36859602
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36394000:T:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1413607810 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:36393834
(GRCh38)
1:36859435
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393833:T:
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1412441982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:36393983
(GRCh38)
1:36859584
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393982:G:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1405139703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36394039
(GRCh38)
1:36859640
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36394038:C:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1400837591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:36393987
(GRCh38)
1:36859588
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393986:G:A,NC_000001.11:36393986:G:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
NC_000001.11:g.36393987G>A, NC_000001.11:g.36393987G>T, NC_000001.10:g.36859588G>A, NC_000001.10:g.36859588G>T, NM_032881.3:c.143C>T, NM_032881.3:c.143C>A, NM_032881.2:c.143C>T, NM_032881.2:c.143C>A, NM_032881.1:c.143C>T, NM_032881.1:c.143C>A, NP_116270.1:p.Ala48Val, NP_116270.1:p.Ala48Asp
14.
rs1377554534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:36393763
(GRCh38)
1:36859365
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393763:A:AA
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1376640713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:36394031
(GRCh38)
1:36859632
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36394030:C:G
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1373136088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36393996
(GRCh38)
1:36859597
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393995:T:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1368033465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36394070
(GRCh38)
1:36859671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36394069:T:C
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
18.
rs1367183224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:36394030
(GRCh38)
1:36859631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36394029:G:A
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000425/7
(TOMMO)
- HGVS:
19.
rs1358143620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36393911
(GRCh38)
1:36859512
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393910:A:G
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1350066269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:36393943
(GRCh38)
1:36859544
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36393942:A:T
- Gene:
- LSM10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: