Links from Protein
Items: 1 to 20 of 2087
1.
rs1490679864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:76755074
(GRCh38)
4:77676227
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76755073:C:G
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1489825411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:76740680
(GRCh38)
4:77661833
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76740679:A:G
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1488772746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76739639
(GRCh38)
4:77660792
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76739638:G:A
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1488337350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:76740312
(GRCh38)
4:77661465
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76740311:G:C
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488229251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:76738800
(GRCh38)
4:77659953
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76738799:T:C
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488028464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:76770700
(GRCh38)
4:77691853
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76770699:C:T
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1488011769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:76739797
(GRCh38)
4:77660950
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76739796:G:C
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487264656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76739280
(GRCh38)
4:77660433
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76739279:G:A
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1487070999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:76741885
(GRCh38)
4:77663038
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76741884:G:A,NC_000004.12:76741884:G:T
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000004.12:g.76741885G>A, NC_000004.12:g.76741885G>T, NC_000004.11:g.77663038G>A, NC_000004.11:g.77663038G>T, NG_028077.1:g.311786G>A, NG_028077.1:g.311786G>T, NM_020859.4:c.3712G>A, NM_020859.4:c.3712G>T, NM_020859.3:c.3712G>A, NM_020859.3:c.3712G>T, NP_065910.3:p.Val1238Met, NP_065910.3:p.Val1238Leu
10.
rs1486847146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:76740773
(GRCh38)
4:77661926
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76740772:T:C
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486637616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:76759609
(GRCh38)
4:77680762
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76759608:C:G
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486539278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:76756620
(GRCh38)
4:77677773
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76756619:T:A
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1486212577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76759572
(GRCh38)
4:77680725
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76759571:G:A
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1486129531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:76739246
(GRCh38)
4:77660399
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76739245:C:T
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_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:
15.
rs1485792088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76555748
(GRCh38)
4:77476901
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76555747:G:A
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1485319673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:76779058
(GRCh38)
4:77700211
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76779057:T:C
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1484853272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:76741465
(GRCh38)
4:77662618
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76741464:C:G
- Gene:
- SHROOM3 (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)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1483662691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:76740255
(GRCh38)
4:77661408
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76740254:C:A
- Gene:
- SHROOM3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000056/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1483583729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:76741729
(GRCh38)
4:77662882
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76741728:G:A
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1483372451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:76749027
(GRCh38)
4:77670180
(GRCh37)
- Canonical SPDI:
- NC_000004.12:76749026:T:G
- Gene:
- SHROOM3 (Varview), SHROOM3-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: